Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants by Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı

Get full text

Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome by Deniz Torun, Mutluay Arslan, Büşranur Çavdarlı, Hatice Akar, David Stephen Cram

Get full text

Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency by Elif Soyak Aytekin, Deniz Çağdaş, Çağman Tan, Büşranur Çavdarlı, Işıl Bilgiç, İlhan Tezcan

Get full text

Severe isolated sulfide oxidase deficiency with a novel mutation by Meriç Ergene, Nuriye Yarar, Elif Perihan Öncel, Taner Sezer, Büşranur Çavdarlı, İsmail Zafer Ecevit, Halil İbrahim Aydın

Get full text

The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience by Dilek Kaçar, Büşranur Çavdarlı, Ayça Koca Yozgat, Melek Işık, Fatma Burçin Kurtipek, Fatma Tuba Yıldırım, Turan Bayhan, Dilek Gürlek Gökçebay, Namık Yaşar Özbek, Neşe Yaralı

Get full text

A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study by Muzaffer Serdar Deniz, Narin Nasiroglu Imga, Belma Ozlem Tural Balsak, Asiye Safak Bulut, Furkan Savas, Busranur Cavdarli, Cevdet Aydin, Oya Topaloglu, Reyhan Ersoy, Bekir Cakir

Get full text

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations by Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van derWesthuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath

Get full text