Eyyüp Üçtepe profile image
Eyyüp Üçtepe Dr. Acıbadem Labgen Genetik Hastalıklar Değerlendirme Merkezi
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3 Publication
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Research Fields

Neurogenetics Molecular Genetics

Institution

Acıbadem Labgen Genetik Hastalıklar Değerlendirme Merkezi

Publications

FANCD2 Pseudogene Interference in Fanconi Anemia: Lessons from a Seven-Patient Turkish Cohort
Authors: Eyyüp Üçtepe , Hilal Yildiz Er, Hanifenur Mancılar, Fatma Nisa Esen, Sait Tümer, Vehap Topçu , Ant Uzay , Ali Bülent Antmen , Aziz Polat , Ahmet Yeşilyurt
Published: 2026 , Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
DOI: -
FAVORITE 0 TOTAL DOWNLOAD COUNT 28

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28

A Mildly Symptomatic Family Without Classical Tuberous Sclerosis Manifestations: Phenotypic Impact of the TSC2 c.3061G>A (p.Glu1021Lys) Missense Variant
Authors: Eyyüp Üçtepe , Rahşan Göçmen , Fatma Müjgan Sönmez
Published: 2026 ,
DOI: -
FAVORITE 0 TOTAL DOWNLOAD COUNT 86

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86

A Novel Nonsense Variant in the *CACNA1E* Gene and Its Association with a Mild Clinical Phenotype: A Case Report
Authors: Eyyüp Üçtepe , Ahmet Yeşilyurt , F. Müjgan Sönmez
Published: 2025 ,
DOI: -
FAVORITE 0 TOTAL DOWNLOAD COUNT 139

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139

Articles published in
Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
Acıbadem Üniversitesi Sağlık Bilimleri Dergisi
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