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.
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Aslihan Sanri, Hakan Gurkan and Selma Demir
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak et al.
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç et al.