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Molecular Syndromology|October 9, 2025
Different Clinic, Different Diagnosis: Tyrosinemia Type 3Hacer Basan, Serdar Ceylaner, Aynur Küçükcongar YavaşMolecular Syndromology|June 3, 2026
An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous NDUFS3 Variant: A Diagnostic Challenge Involving Retinal and Hearing PhenotypesHacer Basan, Emin Emre Kurt, Çiğdem Seher KasapkaraClinical Dysmorphology|May 8, 2026
Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four casesSabire Gokalp, Hacer Basan, Asburce Olgac, et al.American Journal of Medical Genetics. Part A|April 24, 2024
Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe diseaseAynur Küçükcongar Yavaş, Hacer Basan, Serpil Dinçer, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 19, 2026
Management of porphyria-like syndrome in tyrosinemia type 1Hacer Basan, Berrak Bilginer Gürbüz, Fatih Gürbüz, et al.Molecular Syndromology|April 8, 2024
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine DeficiencyHacer Basan, Emine Azak, İbrahim İlker Çetin, et al.Molecular Syndromology|October 8, 2025
Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis DefectAynur Küçükçongar Yavaş, Sümeyra Zeynep Özbey, Bora Ergin, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|June 22, 2026
Diverse clinical spectrum of Niemann-Pick C: insights from a single centerHacer Basan, Berrak Bilginer Gürbüz, Aynur Küçükcongar Yavaş, et al.Pageof 1