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Clinical Heterogeneity in Patients with Long QTSyndrome and Segregation of Single NucleotideVariants and Clinical Symptoms in 17 AffectedFamilies
Molecular Syndromology, 2023

Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan et al.
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Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration
International Journal of Neuroscience, 2023

Seda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K. Oguz, Bulent Elibol
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FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
Molecular Syndromology, 2023

Aysel Tekmenuray Unal and Ceren Damla Durmaz
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Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
Parkinsonism & Related Disorders, 2022

Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı
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Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
Global Medical Genetics, 2022

Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir et al.
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Exome sequencing reveals novel candidate variants for endometriosis and endometrial serous adenocarcinoma in a single family having multiple affected members 
Human Reproduction, 2022

B. G. Kina, N. F. Topbas Selcuki, P. Yalcin Bahat, T. Usta, F. N. Tuncer, and E. Oral
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Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency 
Journal of Clinical Endocrinology & Metabolism, 2022

Tuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, Elvan Bayramoglu et al.
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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Molecular Syndromology, 2022

Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal and Özlem Giray Bozkaya

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