Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
Esra Isik, Yesim Aydinok, Canan Albayrak, Basak Durmus, Zeynep Karakas et al.
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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene
Özlem Yalçın Çapan, Dilşad Türkdoğan, Sertaç Atalay, and Hande S. Çağlayan
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del)
Cüneyd Yavaş, Mustafa Doğan, Recep Eröz & Kübra Türegün
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis
Ümran Aba, İbrahim Cemal Maslak, Canberk İpşir, Damla Pehlivan, Nicholas I. Warnock et al.
Anaemia-based screening for resistance to thyroid hormone alpha in children
Gözde Akın Kağızmanlı, Özgür Kırbıyık, Ayhan Abacı, Ece Böber, Uluç Yiş, Korcan Demir
Case report: Revealing the rare—a Brody Disease patient from Turkey expanding the phenotype
Ayça Şahin, Esmer Zeynep Duru Badakal, Müge Kovancılar Koç, Hilmi Uysal, and Ayşe Nazlı Başak
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report
Elif Bayraktar, Vildan Çiftçi, Hilmi Uysal, and A. Nazlı Başak
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Hamide Betul Gerik-Celebi, Hilal Aydin, Hilmi Bolat and Gul Unsel-Bolat