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2021
Koko, Mahmoud 
ORCID: 0000-0001-9512-0184, Krause, Roland ORCID: 0000-0001-9938-7126, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick ORCID: 0000-0001-8698-3770 and Lerche, Holger
(2021).
Distinct gene-set burden patterns underlie common generalized and focal epilepsies.
EBioMedicine, 72.
AMSTERDAM:
ELSEVIER.
ISSN 2352-3964
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
Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan and Baehring, Robert
(2021).
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum. Mol. Genet., 30 (23).
S. 2300 - 2315.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083