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

Neurological Sciences, 2024By Ahmet Can TurkogluOctober 10, 2024Leave a comment

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

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

BMC Medical Genomics, 2024By Ahmet Can TurkogluSeptember 30, 2024Leave a comment

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

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

Immunologic Research, 2024By Ahmet Can TurkogluSeptember 19, 2024Leave a comment

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

Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma

International Journal of Gynecological Pathology, 2024By Ahmet Can TurkogluJuly 8, 2024Leave a comment

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

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

Journal of Clinical Immunology, 2024By Ahmet Can TurkogluJuly 2, 2024Leave a comment

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

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

Biology of the Cell, 2024By Ahmet Can TurkogluJune 16, 2024Leave a comment

Ozkan Bagci

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

Uncategorized, Neurogenetics, 2024By Ahmet Can TurkogluJune 8, 2024Leave a comment

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

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

Molecular Genetics and Genomic Medicine, 2024By Ahmet Can TurkogluMay 2, 2024

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

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis

European Journal of Haematology, 2024By Ahmet Can TurkogluMay 2, 2024

Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas et al.

Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene

Seizure: European Journal of Epilepsy, 2024By Ahmet Can TurkogluMay 2, 2024

Özlem Yalçın Çapan, Dilşad Türkdoğan, Sertaç Atalay, and Hande S. Çağlayan

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