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American Journal of Medical Genetics. Part A|May 13, 2025
Absence of Neurodevelopmental Impairment in an Individual With KCNN3-Related Zimmermann Laband SyndromeZeynep Esener, Gül Ünsel-Bolat
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|August 3, 2025
Rare Presentations of GLUT1 Deficiency Syndrome: Rare Variants With Cortical Dysplasia in Two Unrelated FamiliesHilal Aydin, Zeynep Esener, Hilmi Bolat, et al.
Molecular Syndromology|July 10, 2025
A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature ReviewKubra Ates, Murat Ozturk, Zeynep Esener, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|March 11, 2026
Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature ReviewZeynep Esener, Edanur Bulut, Gülnur Ertürk Kale, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 6, 2026
Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern TürkiyeDilek Cebeci, Seren Aydin, Aysel Unal, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|December 4, 2018
A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with SHOX Haploinsufficiency, External Male Genitalia, and Short StatureCemal Ekici, Zeynep Esener, Selcen Korkmaz, et al.
Molecular Syndromology|November 13, 2025
Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart DiseasesZeynep Esener, Kübra Ates, Murat Ozturk, et al.
Clinical Dysmorphology|January 15, 2019
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a familyIbrahim Tekedereli, Emine Demiral, Ismail K Gokce, et al.
Journal of Clinical Research in Pediatric Endocrinology|May 8, 2025
Genotype, Phenotype, and Clinical Characteristics of Maturity-onset Diabetes of the Young (MODY): Predominance of GCK-MODYLeman Kayaş, Ayşehan Akıncı, Emine Çamtosun, et al.
Molecular Syndromology|April 3, 2025
Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence AnalysisOzden Ozturk, Murat Ozturk, Kubra Ates, et al.
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