Publications by authors named "Yasin Ada"

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A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
Murat Erdogan, Aysel Unal, Muhammet Ensar Dogan, Sumeyra Oguz, Burhan Balta, Yasin Ada

Am J Med Genet A· September 2025

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Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.
Didem Helvacioglu, Aylin Tugba Canbaz, Aysel Tekmenuray-Unal, Yasin Ada, Ozge Yapici

Eur J Endocrinol· April 2025

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A Novel Variant in Gene, a Controversial Gene, in Long QT Syndrome.
Murat Erdogan, Suleyman Sunkak, Oguzhan Bahadır, Muhammet Ensar Doğan, Yasin Ada

Mol Syndromol· March 2024

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A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
Burcu Yeter Doğan, Neslihan Günay, Yasin Ada, Muhammet Ensar Doğan

Am J Med Genet A· January 2023

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