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
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir et al.
Exome sequencing reveals novel candidate variants for endometriosis and endometrial serous adenocarcinoma in a single family having multiple affected members
B. G. Kina, N. F. Topbas Selcuki, P. Yalcin Bahat, T. Usta, F. N. Tuncer, and E. Oral
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency
Tuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, Elvan Bayramoglu et al.
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal and Özlem Giray Bozkaya
The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey
Murat Erdoğan, Mehmet Köse, Sevgi Pekcan, Melih Hangül, Burhan Balta et al.
Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes
Sinem Yalçıntepe, Işık Göker, Selma Demir, Emine İkbal Atlı, Engin Atlı et al.
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
Ceren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Robin Palvadeau et al.