Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Abdülkerim Kolkıran

h-index 3 View on Semantic Scholar

We have 3 of 33 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Oct 2026

Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study.

Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical heterogeneity. In this multicenter retrospective study, we analyzed 23 patients from 18 families diagnosed across nine centers in Türkiye to characterize the...

Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov et al. · 0 citations
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

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.