Akçahan Akalın

14PUBLICATIONS
62CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Analytical spectrometryOptical technologyNeurology and neuromuscular diseases
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Publications (14)

|Aug 19, 2026
Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

|Apr 18, 2026
A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.

|Mar 17, 2026
A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Gülşen Özer, İbrahim Mert Erbaş, Durdugül Ayyıldız Emecen

|Dec 22, 2025
A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability.

Akçahan Akalın, İsmet Rezani Toptancı, Şervan Özalkak

|Aug 28, 2025
Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan

|Jul 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer

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Frequent Collaborators

5 joint publications

Enise Avcı-Durmuşalioğlu

5 joint publications

Pelin Özlem Şimşek-Kiper

4 joint publications

Ruken Yıldırım

4 joint publications

Nursel H Elcioglu