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Uluç Yiş
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Journal Articles

A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy

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Subject Area:
Genetics
Hüseyin Bahadır Şenol, Çağatay Günay, Ayşe İpek Polat, Adem Aydın, Ayşe Semra Hız, Uluç Yiş
Journal: Molecular Syndromology
Mol Syndromol 1–7.
https://doi.org/10.1159/000543054
Published Online: 10 December 2024
View article titled, A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy
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Journal Articles

A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism

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Subject Area:
Genetics
Hüseyin Bahadır Şenol, Pelin Teke Kısa, Bahar Kulu, Hale Ören, Nur Arslan, Uluç Yiş
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (1): 93–98.
https://doi.org/10.1159/000541285
Published Online: 03 October 2024
View article titled, A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism
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Journal Articles

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

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Subject Area:
Genetics
Beria Sönmez, Mehmet Kocabey, Ayşe İpek Polat, Semra Gürsoy, Pakize Karaoğlu, Rita Horvath, Katherine R. Schon, Ayfer Ülgenalp, Uluç Yiş, Ahmet Okay Çağlayan, Özlem Giray Bozkaya
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (1): 61–68.
https://doi.org/10.1159/000540325
Published Online: 13 August 2024
View article titled, A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
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Journal Articles

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

Free
Subject Area:
Genetics
Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan, Uluç Yiş
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (4): 311–316.
https://doi.org/10.1159/000536344
Published Online: 26 February 2024
View article titled, COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy
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Journal Articles

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

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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 article titled, Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
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Journal Articles

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature

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Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Hanns Lochmüller, Rita Horvath, Uluç Yiş, Yavuz Oktay, Semra Hiz Kurul
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (4): 322–330.
https://doi.org/10.1159/000529494
Published Online: 08 March 2023
View article titled, DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
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