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Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy

Molecular Syndromology, 2023By Ahmet Can TurkogluJune 6, 2023

Hamide Betul Gerik-Celebi, Hilal Aydin, Hilmi Bolat and Gul Unsel-Bolat

Clinical Heterogeneity in Patients with Long QTSyndrome and Segregation of Single NucleotideVariants and Clinical Symptoms in 17 AffectedFamilies

Molecular Syndromology, 2023By Ahmet Can TurkogluJune 2, 2023

Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan et al.

FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature

Molecular Syndromology, 2023By Ahmet Can TurkogluFebruary 6, 2023

Aysel Tekmenuray Unal and Ceren Damla Durmaz

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