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Ceren Yılmaz Uzman
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Journal Articles

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Gamze Sarıkaya Uzan, Ceren Yılmaz Uzman, Tayfun Çinleti, Çağatay Günay, Ayfer Ülgenalp, Semra Hiz Kurul, Uluç Yiş
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 14–21.
https://doi.org/10.1159/000533976
Published Online: 16 October 2023
View articletitled, Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
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Journal Articles

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal, Özlem Giray Bozkaya
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 200–205.
https://doi.org/10.1159/000519364
Published Online: 12 January 2022
View articletitled, Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Open the PDF for Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct in another window