Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

Por Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet
Publicado no Intractable Rare Dis Res (2017)

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

Por Sonmez, Fatma Mujgan, Gleeson, Joseph G., Celep, Figen, Kul, Sibel
Publicado no J Child Neurol (2012)

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Por Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra
Publicado no Intractable Rare Dis Res (2016)

Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder

Por Tarlungeanu, Dora C., Deliu, Elena, Dotter, Christoph P., Kara, Majdi, Janiesch, Philipp Christoph, Scalise, Mariafrancesca, Galluccio, Michele, Tesulov, Mateja, Morelli, Emanuela, Sonmez, Fatma Mujgan, Bilguvar, Kaya, Ohgaki, Ryuichi, Kanai, Yoshikatsu, Johansen, Anide, Esharif, Seham, Ben-Omran, Tawfeg, Topcu, Meral, Schlessinger, Avner, Indiveri, Cesare, Duncan, Kent, Caglayan, Ahmet Okay, Gunel, Murat, Gleeson, Joseph G., Novarino, Gaia
Publicado no Cell (2016)

AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder

Por Akizu, Naiara, Cantagrel, Vincent, Schroth, Jana, Cai, Na, Vaux, Keith, McCloskey, Douglas, Naviaux, Robert K., Vleet, Jeremy Van, Fenstermaker, Ali G., Silhavy, Jennifer L., Scheliga, Judith S., Toyama, Keiko, Morisaki, Hiroko, Sonmez, Fatma Mujgan, Celep, Figen, Oraby, Azza, Zaki, Maha S., Al-Baradie, Raidah, Faqeih, Eissa, Saleh, Mohammad, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stacey, Morisaki, Takayuki, Holmes, Edward W., Gleeson, Joseph G.
Publicado em 2013