A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

Por Karakaya, Mert, Ceyhan-Birsoy, Ozge, Beggs, Alan H., Topaloglu, Haluk
Publicado no J Clin Neuromuscul Dis (2017)

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Por Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin
Publicado no Biomed Res Int (2016)

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia

Por Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin
Publicado no Cold Spring Harb Mol Case Stud (2018)

Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

Por Fazeli, Walid, Karakaya, Mert, Herkenrath, Peter, Vierzig, Anne, Dötsch, Jörg, von Kleist-Retzow, Jürgen-Christoph, Cirak, Sebahattin
Publicado no Mol Cell Pediatr (2016)

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

Por Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Publicado no J Neuromuscul Dis (2015)

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Por Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde
Publicado no Neurol Genet (2018)