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Journal Articles

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1 : First Case from Türkiye

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Subject Area:
Genetics
Leyla Turan, Ezgi Gökpınar İli, Mustafa Doğan, Hakan Erenel, Alper Gezdirici
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000544931
Published Online: 03 March 2025
View article titled, Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1 : First Case from Türkiye
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Journal Articles

A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Cüneyd Yavaş, Nehir Ozdemir Ozgenturk, Mustafa Dogan, Alper Gezdirici, Ece Keskin, Ezgi Gokpınar İli, Tunay Dogan, Evrim Celebi, Onur Bender, Cemal Un
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 1–13.
https://doi.org/10.1159/000533915
Published Online: 16 October 2023
View article titled, A Deeper Insight into COL4A3 , COL4A4 , and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
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Journal Articles

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Alper Gezdirici, Özlem Kalaycik Şengül, Mustafa Doğan, Banu Y. Özgüven, Ekrem Akbulut
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (6): 471–484.
https://doi.org/10.1159/000523937
Published Online: 12 January 2023
View article titled, Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature
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