Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia

HORMONE RESEARCH IN PAEDIATRICS, vol.93, pp.169-170, 2020 (Journal Indexed in SCI) identifier

Recurrent hydatidiform mole: When to stop ?

Clinical and Experimental Obstetrics and Gynecology, vol.47, no.3, pp.424-426, 2020 (Journal Indexed in SCI) 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, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Parieto-occipital alopecia in early infancy mandates cranial imaging

CLINICAL DYSMORPHOLOGY, vol.27, no.1, pp.15-17, 2018 (Journal Indexed in SCI) identifier identifier identifier

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

AMERICAN JOURNAL OF HUMAN GENETICS, vol.100, no.2, pp.216-227, 2017 (Journal Indexed in SCI) 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, vol.170, no.12, pp.3231-3236, 2016 (Journal Indexed in SCI) identifier identifier identifier

Is 1p36 Deletion Associated with Anterior Body Wall Defects?

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.170, no.7, pp.1889-1894, 2016 (Journal Indexed in SCI) identifier identifier identifier

Late Sequel of Meningococcemia: Skeletal Dysplasia

JOURNAL OF PEDIATRICS, vol.173, pp.264-266, 2016 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Intrauterine Imaging Strategies for Bone Disease

HORMONE RESEARCH IN PAEDIATRICS, vol.86, pp.13, 2016 (Journal Indexed in SCI) identifier

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

The Turkish journal of pediatrics, vol.58, no.5, pp.541-544, 2016 (Journal Indexed in SCI) identifier identifier identifier

Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta

HORMONE RESEARCH IN PAEDIATRICS, vol.86, pp.167, 2016 (Journal Indexed in SCI) identifier

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

JOURNAL OF CLINICAL INVESTIGATION, vol.125, no.9, pp.3585-3599, 2015 (Journal Indexed in SCI) identifier identifier identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.167, no.7, pp.1501-1509, 2015 (Journal Indexed in SCI) identifier identifier identifier

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

GENETIC COUNSELING, vol.26, no.2, pp.237-241, 2015 (Journal Indexed in SCI) identifier identifier identifier

Prepubertal Unilateral Gynecomastia: Report of 2 Cases

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.6, no.4, pp.250-253, 2014 (Journal Indexed in SCI) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.3, pp.327-337, 2014 (Journal Indexed in SCI) identifier identifier identifier

XYLT1 Mutations in Desbuquois Dysplasia Type 2

AMERICAN JOURNAL OF HUMAN GENETICS, vol.94, no.3, pp.405-414, 2014 (Journal Indexed in SCI) identifier identifier identifier

Celiac disease in Williams-Beuren syndrome

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.2, pp.154-159, 2014 (Journal Indexed in SCI) identifier identifier identifier

Report of a Patient With Temple-Baraitser Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.3, pp.848-851, 2014 (Journal Indexed in SCI) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) identifier identifier identifier

Three Patients Resembling Teebi-Shaltout Syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.161, no.10, pp.2570-2575, 2013 (Journal Indexed in SCI) identifier identifier identifier

Laboratory Genetic Testing in Clinical Practice

BIOMED RESEARCH INTERNATIONAL, 2013 (Journal Indexed in SCI) identifier identifier identifier

A severity affected case with Schimke immuno-osseous dysplasia

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.47, no.4, pp.319-321, 2012 (Journal Indexed in SCI) Creative Commons License identifier identifier

MRI findings of intracranial malformations in a case with Fraser syndrome

CLINICAL DYSMORPHOLOGY, vol.21, no.4, pp.234-236, 2012 (Journal Indexed in SCI) identifier identifier identifier

IMPAD1 Mutations in Two Catel-Manzke Like Patients

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.9, pp.2183-2187, 2012 (Journal Indexed in SCI) identifier identifier identifier

Wiedemann-Rautenstrauch syndrome: Report of a variant case

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.6, pp.1434-1436, 2012 (Journal Indexed in SCI) identifier identifier identifier

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

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.4, no.1, pp.34-38, 2012 (Journal Indexed in SCI) identifier identifier identifier

A review of the principles of radiological assessment of skeletal dysplasias

JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.3, no.4, pp.163-178, 2011 (Journal Indexed in SCI) identifier identifier identifier

A mutation screen in patients with Kabuki syndrome

HUMAN GENETICS, vol.130, no.6, pp.715-724, 2011 (Journal Indexed in SCI) identifier identifier identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.9, pp.2288-2292, 2011 (Journal Indexed in SCI) 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, vol.57, no.3, pp.178-181, 2011 (Journal Indexed in SCI) identifier identifier

Spondyloenchondrodysplasia: a rare cause of short stature

TURKISH JOURNAL OF PEDIATRICS, vol.53, no.4, pp.464-466, 2011 (Journal Indexed in SCI) identifier identifier identifier

Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.29, no.2, pp.430, 2011 (Journal Indexed in SCI) identifier

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

TURKIYE KLINIKLERI TIP BILIMLERI DERGISI, vol.30, no.6, pp.2052-2056, 2010 (Journal Indexed in SCI) identifier identifier

Cowden syndrome with bronchial asthma

Turkish Journal of Pediatrics, vol.52, no.3, pp.330-332, 2010 (Journal Indexed in SCI) identifier identifier identifier

Response to Shaheen et al.

American Journal of Human Genetics, vol.87, no.2, pp.308, 2010 (Journal Indexed in SCI) identifier identifier

Identification of CANT1 Mutations in Desbuquois Dysplasia

American Journal of Human Genetics, vol.85, no.5, pp.706-710, 2009 (Journal Indexed in SCI) identifier identifier identifier

ALX4 dysfunction disrupts craniofacial and epidermal development

Human Molecular Genetics, vol.18, no.22, pp.4357-4366, 2009 (Journal Indexed in SCI) identifier identifier identifier

Kabuki syndrome and trisomy 10p

Genetic Counseling, vol.19, no.3, pp.291-300, 2008 (Journal Indexed in SCI) identifier identifier identifier

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

Clinical Dysmorphology, vol.17, no.4, pp.289-290, 2008 (Journal Indexed in SCI) identifier identifier identifier

Clinical and radiographic delineation of odontochondrodysplasia

American Journal of Medical Genetics, Part A, vol.146, no.6, pp.770-778, 2008 (Journal Indexed in SCI) identifier identifier identifier

Infantile systemic hyalinosis, a case report

VIRCHOWS ARCHIV, vol.451, no.2, pp.535, 2007 (Journal Indexed in SCI) identifier identifier identifier

Cerebro-facio-thoracic dysplasia: expanding the phenotype

CLINICAL DYSMORPHOLOGY, vol.16, no.2, pp.121-125, 2007 (Journal Indexed in SCI) identifier identifier identifier

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

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, vol.51, pp.151-161, 2007 (Journal Indexed in SCI) identifier identifier identifier

The skeletal dysplasias clinical-molecular correlations

Annals of the New York Academy of Sciences, vol.1117, pp.302-309, 2007 (Journal Indexed in SCI) identifier identifier identifier

Congenital contractural arachnodactyly (Beals syndrome)

ORPHANET JOURNAL OF RARE DISEASES, vol.1, 2006 (Journal Indexed in SCI) identifier identifier identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.6, pp.652-656, 2006 (Journal Indexed in SCI) identifier identifier identifier

Celiac disease screening in 100 Turkish children with Down syndrome

TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.138-140, 2005 (Journal Indexed in SCI) identifier identifier identifier

A case of ring chromosome 18 with mild phenotypic features

CHROMOSOME RESEARCH, vol.13, pp.66, 2005 (Journal Indexed in SCI) identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.1, pp.92-95, 2004 (Journal Indexed in SCI) identifier identifier identifier

Noonan syndrome and systemic lupus erythematosus: presentation in childhood

CLINICAL DYSMORPHOLOGY, vol.13, no.3, pp.161-163, 2004 (Journal Indexed in SCI) identifier identifier identifier

Localized acquired hypertrichosis following cast application

PEDIATRIC DERMATOLOGY, vol.18, no.1, pp.57-59, 2001 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Intrauterine Cataract Diagnosis and Follow-up

TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, vol.50, no.4, pp.245-247, 2020 (Journal Indexed in ESCI) identifier identifier identifier

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

ANNALS OF CLINICAL AND ANALYTICAL MEDICINE, vol.11, no.1, pp.54-58, 2020 (Journal Indexed in ESCI) Sustainable Development identifier

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

Journal of Dentistry and Oral Biology, vol.2, pp.1-5, 2017 (Refereed Journals of Other Institutions)

Gorlin Syndrome in Eleven Patients

JOURNAL OF PEDIATRIC RESEARCH, vol.4, no.2, pp.63-67, 2017 (Journal Indexed in ESCI) Sustainable Development identifier

Clinical genetics and classification of craniosynostosis

Türk Nöroşirürji Dergisi, vol.27, no.3, pp.255-262, 2017 (Other Refereed National Journals)

FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome

OSTEOGENESIS IMPERFECTA: A TRANSLATIONAL APPROACH TO BRITTLE BONE DISEASE, pp.151-157, 2014 (Refereed Journals of Other Institutions) identifier

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

Cocuk Sagligi ve Hastaliklari Dergisi, vol.54, no.2, pp.83-86, 2011 (Refereed Journals of Other Institutions) identifier

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

Cocuk Sagligi ve Hastaliklari Dergisi, vol.47, no.3, pp.205-208, 2004 (Refereed Journals of Other Institutions) identifier

Refereed Congress / Symposium Publications in Proceedings

A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia

Annual Meeting of the American-Society-for-Bone-and Mineral Research (ASBMR), ELECTR NETWORK, 11 - 15 September 2020, vol.35, pp.18 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, Sweden, 15 - 18 June 2019, vol.27, pp.1506-1507 identifier

Screening TYR gene variations in Turkish oculocutaneuse albinism patients

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1233-1234 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, Italy, 16 - 19 June 2018, vol.27, pp.916-917 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, Italy, 16 - 19 June 2018, vol.27, pp.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, Italy, 16 - 19 June 2018, vol.27, pp.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, Italy, 16 - 19 June 2018, vol.27, pp.150 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, Italy, 16 - 19 June 2018, vol.27, pp.992 identifier

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

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.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, Cyprus (Kktc), 29 - 30 June 2017

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

25th European Congress of Perinatal Medicine, Maastricht, Netherlands, 15 - 18 June 2016, vol.29, pp.1-313

Partial monosomy of distal 6q

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70 identifier

Chromosomal abnormalities presented with seizures

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.84 identifier

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

6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.96 identifier

Books & Book Chapters

Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevi, Ankara, pp.2024-2047, 2017