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Author

Ahmet Kablan

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Open access Sep 2026

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.

Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al. · 0 citations
Review Sep 2026

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.

Clinical findings in patients with HCH were milder in individuals with serine substitution than in those with lysine substitution, consistent with this, and underscores genetic and clinical heterogeneity of HCH.

Abdülkerim Kolkıran, M. A. Kulalı, Tuğba Daşar et al. · 0 citations

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