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Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy

Didem Tezen, Zakhiriddin Khojakulov, Ayşegül Gündüz, Feza Deymeer, Veysi Demirbilek, and Ayşe Nazlı Başak

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Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz et al.

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A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Damla Baysal Bakır, Suna Asilsoy, Nevin Uzuner, Halime Yağmur, Gizem Kabadayı et al.

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Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma

Bülbül, Göksenil; Aktaş, Tekincan Çağri; Aysal Ağalar, Anil; Aktaş, Safiye; Kurt, Sefa et al.

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Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Baran Erman, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin et al.

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Association of 3’UTR variations of EGFR and KRAS oncogenes with clinical parameters in lung cancer tumours

Ozkan Bagci

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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients

Hande Ozkalayci, Elcin Bora, Tufan Cankaya, Mehmet Kocabey, Nadide Cemre Zubari et al.

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Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single family

Busra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, Taner Usta, Sevcan Aydin et al.

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