 | Up a level |
Journal Article
Koko, Mahmoud 
ORCID: 0000-0001-9512-0184, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL-Amin, Melka, Esteves, Typhaine, Altmuller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nurnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger and Stevanin, Giovanni ORCID: 0000-0001-9368-8657
(2021).
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Ann. Hum. Genet., 85 (5).
S. 186 - 196.
HOBOKEN:
WILEY.
ISSN 1469-1809