Prof. Dr. YASEMİN ALANAY

TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION , cilt.57, sa.3, ss.178-181, 2011 (SCI-Expanded)

Spondyloenchondrodysplasia: a rare cause of short stature

Yesiltepe-Mutlu G., ÖZSU CAVGA E., ÇİZMECİOĞLU JONES F. M., ALANAY Y., Hatun S.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.4, ss.464-466, 2011 (SCI-Expanded)

Mutations in the TGF beta Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Le Goff C., Mahaut C., Wang L. W., Allali S., Abhyankar A., Jensen S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.89, sa.1, ss.7-14, 2011 (SCI-Expanded)

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., et al.

JOURNAL OF MEDICAL GENETICS , cilt.48, sa.6, ss.417-421, 2011 (SCI-Expanded)

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Putoux A., Thomas S., Coene K. L. M., Davis E. E., ALANAY Y., Ogur G., et al.

NATURE GENETICS , cilt.43, sa.6, ss.601-607, 2011 (SCI-Expanded)

Rapid prenatal diagnosis of common aneuploidies by QF-PCR in the Turkish population

Aktas D., Kutukcu B., Bayram Y., ÜTİNE G. E., ALANAY Y., ÖZYÜNCÜ Ö., et al.

CHROMOSOME RESEARCH , cilt.19, 2011 (SCI-Expanded)

Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases

BİLGİNER Y., ALANAY Y., DÜZOVA A., TOPALOĞLU R., Superti-Furga A., ÖZEN S., et al.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY , cilt.29, sa.2, ss.430, 2011 (SCI-Expanded)

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Lausch E., Janecke A., Bros M., Trojandt S., ALANAY Y., De Laet C., et al.

NATURE GENETICS , cilt.43, sa.2, ss.132-139, 2011 (SCI-Expanded)

PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES

Kilic M., Tokatli A., ALANAY Y., Kilic E., Kalkanoglu-Sivri H. S., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

OPINIONS OF TURKISH PHYSICIANS TOWARDS TERMINATION OF PREGNANCY FOR FETAL DISORDERS

Utine G. E., Kiper P. O., Salanci B. V., ALANAY Y., Aktas D., Alikasifoglu M., et al.

GENETIC COUNSELING , cilt.22, sa.4, ss.401-409, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral Junction

Daglioglu E., ALANAY Y., Ozdol C., Okay O., Dalgic A., Belen D.

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI , cilt.30, sa.6, ss.2052-2056, 2010 (SCI-Expanded)

Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

Tuncbilek G., ALANAY Y., UZUN H., Kayikcioglu A., AKARSU A. N., Benli K.

JOURNAL OF CRANIOFACIAL SURGERY , cilt.21, sa.5, ss.1460-1464, 2010 (SCI-Expanded)

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Response

ALANAY Y., Krakow D.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.87, sa.2, ss.308, 2010 (SCI-Expanded)

Cowden syndrome with bronchial asthma

ÖZSÜREKCİ Y., Yavuz S. T., ALANAY Y., ÜTİNE G. E., Kalayci O.

TURKISH JOURNAL OF PEDIATRICS , cilt.52, sa.3, ss.330-332, 2010 (SCI-Expanded)

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Uz E., ALANAY Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.5, ss.789-796, 2010 (SCI-Expanded)

A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis

ÜTİNE G. E., Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.4, ss.947-949, 2010 (SCI-Expanded)

A Variant of Desbuquois Dysplasia Characterized by Advanced Carpal Bone Age, Short Metacarpals, and Elongated Phalanges: Report of Seven Cases

Kim O., Nishimura G., Song H., Matsui Y., Sakazume S., Yamada M., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.4, ss.875-885, 2010 (SCI-Expanded)

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

ALANAY Y., Avaygan H., Camacho N., ÜTİNE G. E., BODUROĞLU O. K., Aktas D., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.4, ss.551-559, 2010 (SCI-Expanded)

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

Gok F., Crettol L. M., ALANAY Y., Hacihamdioglu B., Kocaoglu M., Bonafe L., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.169, sa.3, ss.363-367, 2010 (SCI-Expanded)

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Iqbal Z., Cejudo-Martin P., de Brouwer A., van der Zwaag B., Ruiz-Lozano P., Scimia M. C., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.2, ss.254-261, 2010 (SCI-Expanded)

Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth

Boybeyi Ö., ALANAY Y., Kayikcioglu A., KARNAK İ.

JOURNAL OF PEDIATRIC SURGERY , cilt.45, sa.1, 2010 (SCI-Expanded)

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Huber C., Fradin M., Edouard T., Le Merrer M., Alanay Y., Da Silva D. B., et al.

Human Mutation , cilt.31, sa.1, ss.20-26, 2010 (SCI-Expanded)

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

HELLEMANS J., SIMON M., DHEEDENE A., ALANAY Y., MIHÇI E., RIFAI L., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.85, sa.6, ss.916-922, 2009 (SCI-Expanded)

Identification of CANT1 Mutations in Desbuquois Dysplasia

Huber C., Oules B., Bertoli M., Chami M., Fradin M., ALANAY Y., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.85, sa.5, ss.706-710, 2009 (SCI-Expanded)

ALX4 dysfunction disrupts craniofacial and epidermal development

Kayserili H., Uz E., Niessen C., VARGEL İ., ALANAY Y., Tuncbilek G., et al.

HUMAN MOLECULAR GENETICS , cilt.18, sa.22, ss.4357-4366, 2009 (SCI-Expanded)

Infantile Systemic Hyalinosis: A Case Report

Gunduz O., ERSOY EVANS S., BODUROĞLU O. K., ALANAY Y., Ozkaya O.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY , cilt.43, sa.3, ss.112-115, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

Turkkani-Asal G., ALANAY Y., Turul-Ozgur T., Zenker M., Thiel C., Rauch A., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.5, ss.493-496, 2009 (SCI-Expanded)

Wilms Tumor, AML and Medulloblastoma in a Child With Cancer Prone Syndrome of Total Premature Chromatid Separation and Fanconi Anemia

Sari N., AKYÜZ C., Aktas D., GÜMRÜK F., ORHAN D., ALİKAŞİFOĞLU M., et al.

PEDIATRIC BLOOD & CANCER , cilt.53, sa.2, ss.208-210, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., ALANAY Y., et al.

JOURNAL OF MEDICAL GENETICS , cilt.46, sa.8, ss.562-568, 2009 (SCI-Expanded)

Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly: Frontofacionasal Dysostosis

Tuncbilek G., ALANAY Y., Kayikcioglu A.

JOURNAL OF CRANIOFACIAL SURGERY , cilt.20, sa.4, ss.1056-1058, 2009 (SCI-Expanded)

Partial Distal Aphalangia, Duplication of Metatarsal IV, Microcephaly and Borderline Intelligence: A Third Patient Suggesting Autosomal Recessive Inheritance

ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.6, ss.1317-1318, 2009 (SCI-Expanded)

Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes

Simsek P. O., ÜTİNE G. E., ALİKAŞİFOĞLU A., ALANAY Y., BODUROĞLU O. K., Kandemir N.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.3, ss.294-297, 2009 (SCI-Expanded)

PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality

Bornholdt D., Oeffner F., Koenig A., Happle R., ALANAY Y., Ascherman J., et al.

HUMAN MUTATION , cilt.30, sa.5, 2009 (SCI-Expanded)

Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients

ÜTİNE G. E., Celik T., ALANAY Y., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Tuncbilek E., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.3, ss.199-206, 2009 (SCI-Expanded)

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in cousin syndrome

Lausch E., Hermanns P., Farin H., ALANAY Y., Unger S., Nikkel S., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.168, sa.3, ss.379, 2009 (SCI-Expanded)

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum

Berker N., ALANAY Y., Elgin U., Volkan-Salanci B., ŞİMŞEK T., AKARSU A. N., et al.

ACTA OPHTHALMOLOGICA , cilt.87, sa.1, ss.52-57, 2009 (SCI-Expanded)

Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment

Andiran N., ALİKAŞİFOĞLU A., ALANAY Y., YORDAM N.

PEDIATRICS INTERNATIONAL , cilt.50, sa.6, ss.836-838, 2008 (SCI-Expanded)

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Lausch E., Hermanns P., Farin H. F., ALANAY Y., Unger S., Nikkel S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.83, sa.5, ss.649-655, 2008 (SCI-Expanded)

Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome

Erdogan M. K., ÜTİNE G. E., ALANAY Y., Aktas D.

CLINICAL DYSMORPHOLOGY , cilt.17, sa.4, ss.289-290, 2008 (SCI-Expanded)

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis

Krakow D., ALANAY Y., Rimoin L. P., Lin V., Wilcox W. R., Lachman R. S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.15, ss.1917-1924, 2008 (SCI-Expanded)

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH

Utine E. G., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Vermeesch J., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.51, sa.4, ss.343-350, 2008 (SCI-Expanded)

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

ÜTİNE G. E., ALANAY Y., Aktas D., TALİM B., Kale G., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.3, ss.287-290, 2008 (SCI-Expanded)

Clinical and radiographic delineation of odontochondrodysplasia

Unger S., Antoniazzi F., Brugnara M., ALANAY Y., ÇAĞLAYAN A. O., Lachlan K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.146A, sa.6, ss.770-778, 2008 (SCI-Expanded)

KABUKI SYNDROME AND TRISOMY 10p

Utine G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., Alikasifoglu M., Tuncbilek E.

GENETIC COUNSELING , cilt.19, sa.3, ss.291-300, 2008 (SCI-Expanded)

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: Report of four cases

Danielpour M., Wilcox W. R., Alanay Y., Pressman B. D., Rimoin D. L.

Journal of Neurosurgery , cilt.107, ss.504-507, 2007 (SCI-Expanded)

Distal partial trisomy 1q: report of two cases and a review of the literature

Utine G. E., Aktas D., ALANAY Y., Guecer S., Tuncbilek E., Mrasek K., et al.

PRENATAL DIAGNOSIS , cilt.27, sa.9, ss.865-871, 2007 (SCI-Expanded)

Infantile systemic hyalinosis, a case report

Gunduz O., Evans S. E., Boduroglu K., ALANAY Y., Ozkaya O.

VIRCHOWS ARCHIV , cilt.451, sa.2, ss.535, 2007 (SCI-Expanded)

Cavernous malformation with Poland-Mijbius syndrome - Case illustration

MUT AŞKUN M., Palaoglu S., ALANAY Y., Ismailoglu O., Tuncbilek E.

JOURNAL OF NEUROSURGERY , cilt.107, sa.1, ss.79, 2007 (SCI-Expanded)

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)

ALANAY Y., Krakow D., Rimoin D. L., Lachman R. S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.11, ss.1159-1168, 2007 (SCI-Expanded)

Cerebro-facio-thoracic dysplasia: expanding the phenotype

Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.

CLINICAL DYSMORPHOLOGY , cilt.16, sa.2, ss.121-125, 2007 (SCI-Expanded)

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Bicknell L. S., Farrington-Rock C., Shafeghati Y., Rump P., ALANAY Y., Alembik Y., et al.

JOURNAL OF MEDICAL GENETICS , cilt.44, sa.2, ss.89-98, 2007 (SCI-Expanded)

A multidisciplinary approach to the management of individuals with fragile X syndrome

ALANAY Y., Unal F., Turanli G., Alikasifoglu M., Alehan D., Akyol U., et al.

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , cilt.51, ss.151-161, 2007 (SCI-Expanded)

The skeletal dysplasias: Clinical-molecular correlations

Rimoin D. L., Cohn D., Krakow D., Wilcox W., Lachman R. S., ALANAY Y.

SKELETAL BIOLOGY AND MEDICINE, PT B , cilt.1117, ss.302-309, 2007 (SCI-Expanded)

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

ALANAY Y., Utine G. E., Lachman R. S., Krakow D., Tuncbilek E.

PEDIATRIC RADIOLOGY , cilt.36, sa.9, ss.970-973, 2006 (SCI-Expanded)

Congenital contractural arachnodactyly (Beals syndrome)

Tuncbilek E., Alanay Y.

ORPHANET JOURNAL OF RARE DISEASES , cilt.1, 2006 (SCI-Expanded)

Spondylo-ocular syndrome: A new entity involving the eye and spine

ALANAY Y., Superti-Furga A., Karel F., Tuncbilek E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.140A, sa.6, ss.652-656, 2006 (SCI-Expanded)

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Renella R., Schaefer E., LeMerrer M., ALANAY Y., Kandemir N., Eich G., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.6, ss.541-550, 2006 (SCI-Expanded)

Analysis of MTHFR 1298A > C in addition to MTHFR 677C > T polymorphism as a risk factor for neural tube defects in the Turkish population

BODUROĞLU O. K., ALANAY Y., Alikasifoglu M., Aktas D., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , cilt.47, sa.4, ss.327-333, 2005 (SCI-Expanded)

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations

ALANAY Y., Aktas D., Utine E., Talim B., Onderoglu L., Caglar M., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.3, ss.265-268, 2005 (SCI-Expanded)

Response to the letter to "MTHTR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women"

Boduroglu K., Alanay Y., Tuncbilek E., Koldan B.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.4, ss.462, 2005 (SCI-Expanded)

MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women [4] (multiple letters)

Martínez-Frías M. L., Bermejo E., Rodríguez-Pinilla E., Prieto D., Prieto L., Boduroǧlu K., et al.

American Journal of Medical Genetics , sa.4, ss.461-462, 2005 (SCI-Expanded)

Celiac disease screening in 100 Turkish children with Down syndrome

ALANAY Y., BODUROĞLU O. K., Tuncbilek E.

TURKISH JOURNAL OF PEDIATRICS , cilt.47, sa.2, ss.138-140, 2005 (SCI-Expanded)

Clinical heterogeneity of hereditary optic atrophy in a Turkish family

Acaroglu G., ALANAY Y., Reynier P., Amati-Bonneau P., Men G.

NEURO-OPHTHALMOLOGY , cilt.29, sa.1, ss.9-15, 2005 (SCI-Expanded)

The evolution of sagittal segmental alignment of the spine during childhood

Cil A., Yazici M., Uzumcugil A., Kandemir U., Alanay A., ALANAY Y., et al.

SPINE , cilt.30, sa.1, ss.93-100, 2005 (SCI-Expanded)

A case of ring chromosome 18 with mild phenotypic features

BODUROĞLU O. K., ALANAY Y., Tuncbillek E.

CHROMOSOME RESEARCH , cilt.13, ss.66, 2005 (SCI-Expanded)

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Ha-Vinh R., ALANAY Y., Bank R., Campos-Xavier A., Zankl A., Superti-Furga A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.2, ss.115-120, 2004 (SCI-Expanded)

Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance

ALANAY Y., BODUROĞLU O. K., Sonmez B., Orhan M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.1, ss.92-95, 2004 (SCI-Expanded)

Noonan syndrome and systemic lupus erythematosus: presentation in childhood

ALANAY Y., Balci S., Ozen S.

CLINICAL DYSMORPHOLOGY , cilt.13, sa.3, ss.161-163, 2004 (SCI-Expanded)

Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women

BODUROĞLU O. K., ALANAY Y., Koldan B., Tuncbilek E.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.1, ss.5-10, 2004 (SCI-Expanded)

Perinatal mortality rate - Hospital based study during 1998-2001 at Hacettepe University

Durukan T., Onderoglu L., Deren O., Saygan-Karamursel B., Erdem G., Oran O., et al.

JOURNAL OF PERINATAL MEDICINE , cilt.31, sa.5, ss.435-440, 2003 (SCI-Expanded)

Localized acquired hypertrichosis following cast application

Kara A., Kanra G., Alanay Y.

PEDIATRIC DERMATOLOGY , cilt.18, sa.1, ss.57-59, 2001 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Chong J. X., Childers M. C., Marvin C. T., Marcello A. J., Gonorazky H., Hazrati L., et al.

HUMAN GENETICS AND GENOMICS ADVANCES , cilt.4, sa.3, 2023 (ESCI) Sürdürülebilir Kalkınma

Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası

AKGÜN DOĞAN Ö., AĞAOĞLU N. B., ALANAY Y.

Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi , cilt.11, sa.1, ss.82-89, 2022 (Hakemli Dergi)

Intrauterine Cataract Diagnosis and Follow-up

Aksay S., BİLDİRİCİ İ., COŞAR C. B., ALANAY Y., Cigerciogullari E.

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY , cilt.50, sa.4, ss.245-247, 2020 (Hakemli Dergi)

The process of how mothers with down's syndrome children learn about the diagnosis: A qualitative research

Basgul S. S., Mutlu D., ALANAY Y., Toker M.

ANNALS OF CLINICAL AND ANALYTICAL MEDICINE , cilt.11, sa.1, ss.54-58, 2020 (Hakemli Dergi) Sürdürülebilir Kalkınma

Dental Findings and Mutational Analysis of a Case withEhlers-Danlos Syndrome

HAKKI S., Aktaş D., ALANAY Y., AVUNDUK M. C., HAKKI E. E.

Journal of Dentistry and Oral Biology , cilt.2, ss.1-5, 2017 (Hakemli Dergi)

Gorlin Syndrome in Eleven Patients

ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.

JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.2, ss.63-67, 2017 (Hakemli Dergi) Sürdürülebilir Kalkınma

Clinical genetics and classification of craniosynostosis

ŞAHİN O. N., Alanay Y.

Türk Nöroşirürji Dergisi , cilt.27, sa.3, ss.255-262, 2017 (Hakemli Dergi)

FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

Krakow D., ALANAY Y.

OSTEOGENESIS IMPERFECTA: A TRANSLATIONAL APPROACH TO BRITTLE BONE DISEASE , ss.151-157, 2014 (Hakemli Dergi)

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

Keupp K., Li Y., VARGEL İ., Hoischen A., Richardson R., Neveling K., et al.

MOLECULAR GENETICS & GENOMIC MEDICINE , cilt.1, sa.4, ss.223-237, 2013 (ESCI)

Early physiotherapy interventions in a case with the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome and arthrogryposis multiplex congenita

KINIKLI G. İ., GÜR G., MUTLU A., KEREM GÜNEL M., ALANAY Y.

Yeni Tıp Dergisi , cilt.29, sa.2, ss.108-111, 2012 (Hakemli Dergi)

Pentalogy of Cantrell: A case report Tam ektopia kordisli bir Cantrell pentalojisi vakasi

KILIÇ E., Alanay Y., Korkmaz A., Ütine E., KARAGÖZ T., Boduroǧlu K.

Cocuk Sagligi ve Hastaliklari Dergisi , cilt.54, sa.2, ss.83-86, 2011 (Scopus)

Searching f(o)r Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability

Utine G. E., Kiper P. O., ALANAY Y., Haliloglu G., Aktas D., BODUROĞLU O. K., et al.

MOLECULAR SYNDROMOLOGY , cilt.2, sa.2, ss.64-71, 2011 (Hakemli Dergi)

Perinatal mortality analysis from 2001-2006 at Hacettepe University Hospital Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi

Korkmaz A., AKÇÖREN Z., Alanay Y., ÖZYÜNCÜ Ö., YİĞİT Ş., DEREN Ö., et al.

Cocuk Sagligi ve Hastaliklari Dergisi , cilt.53, sa.3, ss.175-188, 2010 (Scopus)

Femoral-facial syndrome: A case-report Femoral hipoplazi ve deǧişik yüz görünü mü sendromu: Bir vaka takdimi

Korkmaz A., Çinar A., TEKŞAM Ö., YURDAKÖK M., Alanay Y., Balci S.

Cocuk Sagligi ve Hastaliklari Dergisi , cilt.47, sa.3, ss.205-208, 2004 (Scopus)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Yoğun Bakımdaki Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı-İlk Türkiye Deneyimi

Güner Yılmaz B., Akgün Doğan Ö., Özdemir Ö., Bilgüvar K., Hatırnaz Ng Ö., Özköse G. Ş., et al.

Ulusal Neonatoloji Kongresi, Antalya, Türkiye, 24 - 28 Nisan 2024

Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience

Akalin A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.408-409 Sürdürülebilir Kalkınma

Camptodactyly, Tall Stature, And Hearing Loss Syndrome with a Novel Homozygous FGFR3 Variant

Akgün Doğan Ö., Abalı S., Alanay Y.

19th Manchester Dysmorphology Conference 2023, Manchester, İngiltere, 16 - 18 Kasım 2023, ss.13-14

First Report of Heterozygous Intragenic Deletion in NPR2 Presenting with Familial Short Stature

Akgün Doğan Ö., Alanay Y.

19th Manchester Dysmorphology Conference 2023, Manchester, İngiltere, 16 - 18 Kasım 2023, ss.10-12

Obstacles and Expectations of Rare Disease Patients and Their Families in Türkiye: ISTisNA Project Survey Results

Hatırnaz Ng Ö., Özdemir Ö., Alanay Y., Akgün Doğan Ö.

12th International Conference on Rare and Undiagnosed Diseases, Tbilisi, Gürcistan, 22 - 23 Ekim 2023, ss.1

From patient to function: modeling CRIM1 in xenopus tropicalis

AKGÜN DOĞAN Ö., Viviano S., HATIRNAZ NG Ö., Agaoglu N. B., Ji W., Jeffries L., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.656-657

Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature

Yilmaz B. G., ABALI S., Akberzade A., Ay B., Tumer S., AKGÜN DOĞAN Ö., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.127 Sürdürülebilir Kalkınma

Retrospective analysis of fetal magnetic resonance imaging (feMRI) examinations in the last 10 years at a tertiary center: experience of a single radiologist and a single perinatologist

Ay B., Sari E., ALİS D. C., KARAARSLAN E., Bildirici I., ALANAY Y.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.105 Sürdürülebilir Kalkınma

Multiple epiphyseal dysplasia: A diagnostic challenge with genetic heterogeneity

Dasar T. N., TAŞKIRAN Z. E., Urel-Demir G., KARAOSMANOĞLU B., İMREN G., YILMAZ G., et al.

55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Avusturya, 11 - 14 Haziran 2022, ss.397 Sürdürülebilir Kalkınma

Geçici neonatal myasteni gravis mi? Fetal asetilkolin reseptör inaktivasyon sendromu mu?8

Aktas S., Kazancı E., Güner Yılmaz B., Korkmaz Toygar A., Alanay Y., Çomu S.

Ulusal Neonatoloji Kongresi, Antalya, Türkiye, 26 - 30 Nisan 2023

Severely Affected Newborn Female With De Novo Likely Pathogenic Variant In BCAP31

Güner Yılmaz B., Aktas S., Kazancı E., Zeybel G., Özköse G. Ş., Akgün Doğan Ö., et al.

Undiagnosed diseases network international (UDNI), Vienna, Avusturya, 7 - 08 Kasım 2022

Evaluation of the etiology of epilepsy and/or developmental delay in children with next generation sequencing:A single center experience

Kava H., Alanay Y., Yeşilyurt A., Isık U.

17. International Child Neurology Congress, Antalya, Türkiye, 3 - 07 Ekim 2022, ss.2

Molecular Diagnosis of TYR Negative Albinism Patients by Clinical Exome Sequencing

Akyoney S., Sahin I., Unal B., Agaoglu N. B., Mudun A., Parlakgunes Z., et al.

54th Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 28 - 31 Ağustos 2021, ss.118

The third family with TAF6-related phenotype: Alazami-Yuan syndrome

Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.

53rd Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 6 - 09 Haziran 2020, ss.904 Sürdürülebilir Kalkınma

A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia

Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C., Hoover-Fong J., et al.

Annual Meeting of the American-Society-for-Bone-and Mineral Research (ASBMR), ELECTR NETWORK, 11 - 15 Eylül 2020, cilt.35, ss.18

Does my expertise still make a difference? A single-clinician's experience of genomic sequencing in 120 pediatric patients

Bengur F. B., KAR E., YARARBAŞ K., ALANAY Y.

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1506-1507

Screening TYR gene variations in Turkish oculocutaneuse albinism patients

Ng O. H., YILMAZ E., Parlakgunes Z., YARARBAŞ K., Ziylan S., ALANAY Y., et al.

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1233-1234

WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu

Tunç E., TEMEL Ş. G., ALANAY Y.

4.Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019

Meester-Loeys sendromu: Marfan benzeri sendromlara yeni bir üye

ZEYBEK S., TEMEL Ş. G., NUR B., ÖZEMRİ SAĞ Ş., ALANAY Y., MIHÇI E.

4. Ulusal Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019

The Skeletal Dysplasia Registry: Hacettepe Experience

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norveç, 11 - 14 Eylül 2019

Possible effect of IGFR1 gene on macrocephaly in a patient with unbalanced 6;15 translocation with 6p25 deletion and 15q26 duplication

YARARBAŞ K., Sayar C., Tumer S., Ozciger D., Tavukcu C., Oncu N., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.992

Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

Kablan A., Mat B., Temel Ş. G., ALANAY Y.

Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry

Simsek-Kiper P. O., Utine G. E., Taskiran E. Z., Kosukcu C., Arslan U., ALANAY Y., et al.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challange

Oguz S., Kiper P. O. S., Utine G. E., ALANAY Y., Ozen S., BODUROĞLU O. K., et al.

Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients

Turkgenc B., TEMEL Ş. G., UYSAL F., Atik S. U., Oztunc F., Sulu A., et al.

BİLEŞİK HETEROZİGOT GALNS MUTASYONU İLE TANI ALAN KLASİK OLMAYAN MUKOPOLİSAKKARİDOZ TİP IVA

ABALI S., YARARBAŞ K., Ersoy Olbak M., Karabıyık N., İçten İ., ÇELEBİ A. R. C., et al.

3. EGE ENDOKRİN HASTALIKLAR VE GENETİK SEMPOZYUMU, Türkiye, 8 - 09 Mart 2019

Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene

Temel Ş. G., Ekmekci G., Yenmis G., Kiper P. O. S., ALANAY Y.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.956

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challenge.

OĞUZ S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., ÖZEN S., BODUROĞLU O. K., et al.

European Human Genetics Conference, 16 - 19 Haziran 2018

Otozomal resesif infantil bilateral striatal nekroz,nup 62 geninde mutasyon: olgu sunumu

ÜNVER O., SAĞER S. G., ÖZTÜRK THOMAS G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.

20. Çocuk Ulusal Nörolojisi Kongresi, Kıbrıs (Kktc), 2 - 06 Mayıs 2018

Normal enzim düzeyleri ve Japon Bayrağı göz dibi ile GM2 Gangliyosidoz tanısı alan iki kardeş: olgu sunumu

ÜNVER O., ÖZTÜRK THOMAS G., SAĞER S. G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.

6. uluslararası katılımlı lizozomal hastalıklar kongresi, Türkiye, 11 - 15 Nisan 2018

Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome

TEMEL Ş. G., Turkgenc B., KARADAĞ Ö., AYKAN H. H., UYSAL F., Bastuhan I. Y., et al.

European Biotechnology Congress, Dubrovnik, Hırvatistan, 25 - 27 Mayıs 2017, cilt.256

A NEW MUTATION IN THE WISP3 GENE (c.935_936insTp. C314Lfs7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

ABUR Ü., OĞUR M. G., AYKUT A., ALANAY Y.

Erciyes Medical Journal, 11 - 13 Mayıs 2017, cilt.39

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017

A report of mosaic Turner syndrome with a mild Kabuki like phenotype

Yararbas K., Sayar C., Tumer S., Tavukcu C., Oncu N., Ozciger D., et al.

cilt.10

Baraitser-Winter Syndromein a boy with heterozygote missense mutation in the ACTB gene.

TEMEL Ş. G., ALANAY Y., Cumhur E., Pelin Özlem K. Ş.

ESHG Conference 2017, 27 - 30 Mayıs 2017

Mitokondriyal hastalıklarda genetik testlerin rolü-iki olgu sunumu

ÖZTÜRK THOMAS G., ÜNVER O., SAĞER S. G., KUTLUBAY B., ALANAY Y., Yüksel F., et al.

19. Ulusal çocuk nörolojisi kongresi, Türkiye, 19 - 23 Nisan 2017

Clinical and Molecular Analysis of 3M Syndrome Patients A Study From Turkey

ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., Cormier Daire V., et al.

28th International Congress of Pediatrics, 17 - 22 Ağustos 2016

Detection of 15q (Prader Willi/Angelman) deletion in maternal cell-free fetal dna test, a case report

BATUKAN A. C., TAKMAZ Ö., YAKICIER M. C., ALANAY Y., ÖZBAŞLI E., Tosun O.

25th European Congress of Perinatal Medicine, Maastricht, Hollanda, 15 - 18 Haziran 2016, cilt.29, ss.21-22

Meier Gorlin ear patella short stature syndrome A rare clinical entity

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ALANAY Y., ÜTİNE G. E., BODUROĞLU O. K.

European Society of Human Genetics Conference 2016, 21 - 24 Mayıs 2016

OBSL1 Mutations Represent The Major Gene Defect In A Group Of 3M Syndrome Patients A Study From Turkey

ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., ARSLAN U., Koşukçu C., AKGÜN DOĞAN Ö., ÜTİNE G. E., et al.

European Society of Human Genetics Conference 2016, 21 - 24 Mayıs 2016

Detection of 15q (Prader Willi/ Angelman syndrome) deletion in maternal cell-free fetal DNA test; A case report

BATUKAN C., TAKMAZ Ö., YAKICIER C., ALANAY Y., ÖZBAŞLI E.

XI. Türk Alman Jinekoloji Kongresi, Antalya, Türkiye, 11 - 15 Mayıs 2016

Parsiyel Trizomi 19 9 ile ilşkili bir İmmün Yetmezlik

BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.

2. Klinik İmmonoloji Kongresi, Türkiye, 31 Mart - 03 Nisan 2016

Parsiyel Trizomi 19p13 ile iliişkili bir immün yetmezlik

BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.

2. Klinik İmmunoloji Kongresi, Türkiye, 31 Mart - 03 Nisan 2016

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

ŞİMŞEK KİPER P. Ö., EKİM ZİHNİ T., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., VALERİE C. D., et al.

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Türkiye, 22 - 24 Ekim 2015

A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome

Burcu T., TEMEL Ş. G., AYKAN H. H., SÜLÜ A., UYSAL F., BAŞPINAR O., et al.

American Society of Human Genetics Congress, 6 - 10 Ekim 2015

3D Image analysis of facial skeletal and soft tissue changes after monobloc distraction

CANTER H. İ., ÖZEK M., ÇAKAN D., ALANAY Y., YILDIZ M. E., YILDIZ K.

The 16th Congress of International Society of Craniofacial Surgery (ISCFS), 14 - 18 Eylül 2015

CLINICAL AND MOLECULAR STUDY OF A SERIES OF 31 PATIENTS WITH CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS

Ranza E., Huber C., Levin N., Baujat G., ALANAY Y., Al Gazali L., et al.

12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING’, 29 Temmuz - 01 Ağustos 2015

Spotlight on the pathogenesis of Kabuki syndrome

Bögershausen N., Tsai I. C., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., PERÇİN F. E., et al.

European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, 6 - 09 Haziran 2015

Spotlight on the pathogenesis of Kabuki syndrome

NİNA B., TSAİ I., POHL E., ŞİMŞEK KİPER P. Ö., BELEGGIA F., PERÇİN F. E., et al.

ESHG 2015, 6-9 June 2015, Glasgow, Scotland, United Kingdom., 6 - 09 Haziran 2015

Spotlight on the pathogenesis of Kabuki syndrome

Bögershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., Percin F., et al.

European Human GeneticsConference 2015, 6 - 09 Haziran 2015

Bir Olgu Nedeni ile PTH Direnci Pseudohipoparatiroidi tip1 A Albright Herediter Osteodistrofisi mi Akrodisostoz mu

RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., YÜKSEL A., ÇİZMECİOĞLU F. M., HATUN Ş.

16.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Samsun, Türkiye, 6 - 10 Kasım 2012

Cabezas Sendromu

ÖZSU E., RAHİME GÜL Y. M., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.

15. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, İzmir, Türkiye, 23 - 26 Kasım 2011

Metabolik Sendrom Carnevale Sendrom Birlikteliği Vaka Sunumu

RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.

15.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, İzmir, Türkiye, 23 - 26 Kasım 2011

BİR SPONDİLO ENDONDRO DİSPLAZİ VAKASI

RAHİME GÜL Y. M., ÖZSU E., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.

14. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Muğla, Türkiye, 4 - 10 Ekim 2010

Two siblings with severe deforming osteogenesis imperfecta with mutations in the newly idendified recessive OI gene FKBP 65

RAHİME GÜL Y. M., ALANAY Y., AKARSU A. N., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.

ESPE 49.Annual Meeting, PRAGUE, 22 - 25 Eylül 2009

Rapid prenatal diagnosis of common aneuploidies by QF-PCR, four years experience of Hacettepe University

Aktas D., Kutukcu B., Utine G., ALANAY Y., Deren O., BODUROĞLU O. K., et al.

7th European Cytogenetics Conference, Stockholm, İsveç, 4 - 07 Temmuz 2009, cilt.17, ss.209

Two patients with distal partial trisomy 1q

Aktas D., Utine E., ALANAY Y., Gucer S., Tuncbilek E., Mrasek K., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70-71

Bloom syndrome in a child with severe short stature and wilms tumor

Boduroglu K., ALANAY Y., Alikasifoglu M., Aktas D., Utine G. E., Tuncbilek E.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.142-143

Chromosomal abnormalities presented with seizures

Volkan-Salanci V., Utine G. E., Alanay Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.84

Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion

Kurtul K., Boduroglu K., ALANAY Y., Utine E., Salanci B. V., Aktas D., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.96

Partial monosomy of distal 6q

Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu A., Tuncbilek E.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70

Unilateral peters' anomaly type I in an infant with 22q11.2 deletion syndrome

Erdogan K. M., Utine G. E., ALANAY Y., Volkan-Salanci B., Boduroglu K., Aktas D., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.100

The detection of subtelomeric chromosomal rearrangements in 100 patients with idiopathic mental retardation: Hacettepe University Experience

Celik T., Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.

6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70

Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler