Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.

European journal of medical genetics, ss.103659, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, cilt.221, ss.76-80, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Parieto-occipital alopecia in early infancy mandates cranial imaging

CLINICAL DYSMORPHOLOGY, cilt.27, ss.15-17, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

MOLECULAR CYTOGENETICS, cilt.10, 2017 (SCI İndekslerine Giren Dergi) identifier

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.100, ss.216-227, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, ss.3231-3236, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Is 1p36 Deletion Associated with Anterior Body Wall Defects?

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, ss.1889-1894, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Late Sequel of Meningococcemia: Skeletal Dysplasia

JOURNAL OF PEDIATRICS, cilt.173, ss.264-266, 2016 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

The Turkish journal of pediatrics, cilt.58, ss.541-544, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

HORMONE RESEARCH IN PAEDIATRICS, cilt.86, ss.167, 2016 (SCI İndekslerine Giren Dergi) identifier

Intrauterine Imaging Strategies for Bone Disease

HORMONE RESEARCH IN PAEDIATRICS, cilt.86, ss.13, 2016 (SCI İndekslerine Giren Dergi) identifier

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

ORPHANET JOURNAL OF RARE DISEASES, cilt.10, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

JOURNAL OF CLINICAL INVESTIGATION, cilt.125, ss.3585-3599, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Mutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.167, ss.1501-1509, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582)

GENETIC COUNSELING, cilt.26, ss.237-241, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Prepubertal Unilateral Gynecomastia: Report of 2 Cases

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.6, ss.250-253, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, ss.327-337, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

XYLT1 Mutations in Desbuquois Dysplasia Type 2

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.94, ss.405-414, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Report of a Patient With Temple-Baraitser Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, ss.848-851, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Celiac disease in Williams-Beuren syndrome

TURKISH JOURNAL OF PEDIATRICS, cilt.56, ss.154-159, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, ss.291-304, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Three Patients Resembling Teebi-Shaltout Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.161, ss.2570-2575, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Laboratory Genetic Testing in Clinical Practice

BIOMED RESEARCH INTERNATIONAL, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A severity affected case with Schimke immuno-osseous dysplasia

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.47, ss.319-321, 2012 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier

MRI findings of intracranial malformations in a case with Fraser syndrome

CLINICAL DYSMORPHOLOGY, cilt.21, ss.234-236, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

IMPAD1 Mutations in Two Catel-Manzke Like Patients

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.2183-2187, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Wiedemann-Rautenstrauch syndrome: Report of a variant case

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.1434-1436, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.4, ss.34-38, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A review of the principles of radiological assessment of skeletal dysplasias

JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.3, ss.163-178, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A mutation screen in patients with Kabuki syndrome

HUMAN GENETICS, cilt.130, ss.715-724, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Beals Hecht Syndrome-Arthrogryposis Multiplex Congenita-Congenital Arachnodactyly: Case Report

TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION, cilt.57, ss.178-181, 2011 (SCI İndekslerine Giren Dergi) identifier identifier

Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.2288-2292, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Spondyloenchondrodysplasia: a rare cause of short stature

TURKISH JOURNAL OF PEDIATRICS, cilt.53, ss.464-466, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

NATURE GENETICS, cilt.43, ss.601-607, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.29, ss.430, 2011 (SCI İndekslerine Giren Dergi) identifier

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

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, cilt.30, ss.2052-2056, 2010 (SCI İndekslerine Giren Dergi) identifier identifier

Cowden syndrome with bronchial asthma

Turkish Journal of Pediatrics, cilt.52, ss.330-332, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Response to Shaheen et al.

American Journal of Human Genetics, cilt.87, ss.308, 2010 (SCI İndekslerine Giren Dergi) identifier identifier

Identification of CANT1 Mutations in Desbuquois Dysplasia

American Journal of Human Genetics, cilt.85, ss.706-710, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

ALX4 dysfunction disrupts craniofacial and epidermal development

Human Molecular Genetics, cilt.18, ss.4357-4366, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Kabuki syndrome and trisomy 10p

Genetic Counseling, cilt.19, ss.291-300, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

Clinical Dysmorphology, cilt.17, ss.289-290, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Clinical and radiographic delineation of odontochondrodysplasia

American Journal of Medical Genetics, Part A, cilt.146, ss.770-778, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Infantile systemic hyalinosis, a case report

VIRCHOWS ARCHIV, cilt.451, ss.535, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Cerebro-facio-thoracic dysplasia: expanding the phenotype

CLINICAL DYSMORPHOLOGY, cilt.16, ss.121-125, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, cilt.51, ss.151-161, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

The skeletal dysplasias clinical-molecular correlations

Annals of the New York Academy of Sciences, cilt.1117, ss.302-309, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Congenital contractural arachnodactyly (Beals syndrome)

ORPHANET JOURNAL OF RARE DISEASES, cilt.1, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.652-656, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Celiac disease screening in 100 Turkish children with Down syndrome

TURKISH JOURNAL OF PEDIATRICS, cilt.47, ss.138-140, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A case of ring chromosome 18 with mild phenotypic features

CHROMOSOME RESEARCH, cilt.13, ss.66, 2005 (SCI İndekslerine Giren Dergi) identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.92-95, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Noonan syndrome and systemic lupus erythematosus: presentation in childhood

CLINICAL DYSMORPHOLOGY, cilt.13, ss.161-163, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Localized acquired hypertrichosis following cast application

PEDIATRIC DERMATOLOGY, cilt.18, ss.57-59, 2001 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

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

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

Gorlin Syndrome in Eleven Patients

JOURNAL OF PEDIATRIC RESEARCH, cilt.4, ss.63-67, 2017 (ESCI İndekslerine Giren Dergi) identifier

FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

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

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

Cocuk Sagligi ve Hastaliklari Dergisi, cilt.54, ss.83-86, 2011 (Diğer Kurumların Hakemli Dergileri) identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Screening TYR gene variations in Turkish oculocutaneuse albinism patients

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

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

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

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

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.916-917 identifier

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

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 identifier

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

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.130 identifier

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

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.97 identifier

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

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.150 identifier

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

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

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

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

Partial monosomy of distal 6q

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

Chromosomal abnormalities presented with seizures

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

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

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

Kitap & Kitap Bölümleri

Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları

Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitabevi, Ankara, ss.2024-2047, 2017