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Molecular Syndromology|July 14, 2026
Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos SyndromeSabri Aynacı, Sinem Kocagil, Oğuz ÇilingirMolecular Syndromology|May 15, 2026
IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish PatientSinem Kocagil, Hilal Gölcür, Sabri Aynacı, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|March 31, 2022
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from TurkeyMüge Çınar, Gonca Kılıç Yıldırım, Sinem Kocagil, et al.Case Reports in Perinatal Medicine|June 10, 2025
Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysisMasum Kayapınar, Zafer Bütün, Ece Akça Salık, et al.Kardiologia Polska|April 7, 2022
Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fractionSelda Murat, Yuksel Cavusoglu, Halit Emre Yalvac, et al.Molecular Syndromology|December 7, 2023
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the LiteratureSinem Kocagil, İkbal Nur Şafak, Elif Saraç, et al.Journal of Pediatric Genetics|June 30, 2022
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic FeaturesKursat Bora Carman, Emre Kaplan, Cefa Nil Aslan, et al.Journal of Clinical Research in Pediatric Endocrinology|December 6, 2023
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes MellitusEnver Şimşek, Oğuz Çilingir, Tülay Şimşek, et al.Molecular Syndromology|May 7, 2025
A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and DysmorphismSabri Aynacı, Sinem Kocagil, Coşkun Yarar, et al.The Turkish Journal of Pediatrics|July 28, 2022
A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosisCan Aydın, Eylem Kıral, Ezgi Susam, et al.Pageof 3