Şahin Avcı

9PUBLICATIONS
36CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMolecular imaging (incl. electron microscopy and neutron diffraction)
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Publications (9)

|Feb 18, 2026
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Volkan Karaman, Ayça Dilruba Aslanger, Tuğba Saraç Sivrikoz

|Dec 26, 2025
Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.

Ayfer Arduç Akçay, Gulshan Yunisova, Şahin Avcı

|Apr 02, 2025
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı

|May 07, 2024
A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant.

Selen Üçem, Şahin Avcı, Candan Gürses

|Jun 20, 2023
<i>PROKR2</i> Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

Aslı Derya Kardelen, Adam Najafli, Firdevs Baş

|Apr 17, 2023
Revisiting TOP2B-related phenotypes: Three new cases and literature review.

Ece Çepni, Esra Börklü, Şahin Avcı

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