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
Clinical Heterogeneity in Patients with Long QTSyndrome and Segregation of Single NucleotideVariants and Clinical Symptoms in 17 AffectedFamilies
Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan et al.
Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration
Seda Susgun, Mert Demirel, Gul Yalcin Cakmakli, Baris Salman, Kader K. Oguz, Bulent Elibol
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
Aysel Tekmenuray Unal and Ceren Damla Durmaz
Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı