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Mahmoud Koko
112
results:
Search for persons
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Online (112)
Mediatypes
Articles (Online) (31)
OpenAccess-fulltext (80)
Thesis (Online) (1)
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?
1
Bi-allelic PRRT2 variants may predispose to Self-limited Fa..:
Koko, Mahmoud
;
Elseed, Maha A.
;
Mohammed, Inaam N.
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
2
Machado-Joseph disease in a Sudanese family links East Afri..:
Martins, Sandra
;
Yahia, Ashraf
;
Costa, Inês P. D.
...
Human Genetics. 142 (2023) 12 - p. 1747-1754 , 2023
Link:
https://doi.org/10.1007/..
?
3
Clinical and electrophysiological features of SCN8A variant..:
Lyu, Hang
;
Boßelmann, Christian M.
;
Johannesen, Katrine M.
...
eBioMedicine. 98 (2023) - p. 104855 , 2023
Link:
https://doi.org/10.1016/..
?
4
Mutations in plasticity-related-gene-1 (PRG-1) protein cont..:
Knierim, Ellen
;
Vogt, Johannes
;
Kintscher, Michael
...
Cerebral Cortex. 33 (2023) 12 - p. 7454-7467 , 2023
Link:
https://doi.org/10.1093/..
?
5
Case report: Novel SCN4A variant associated with a severe c..:
Berghold, Veronika M.
;
Koko, Mahmoud
;
Berutti, Riccardo
.
Frontiers in Pediatrics. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
6
Association of ultra‐rare coding variants with genetic gene..:
Koko, Mahmoud
;
Motelow, Joshua E.
;
Stanley, Kate E.
...
Epilepsia. 63 (2022) 3 - p. 723-735 , 2022
Link:
https://doi.org/10.1111/..
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7
Case Report: A New Family With Pontocerebellar Hypoplasia 1..:
Amin, Mutaz
;
Vignal, Cedric
;
Hamed, Ahlam A. A.
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
8
Loss-of-function variants in the KCNQ5 gene are implicated ..:
Krüger, Johanna
;
Schubert, Julian
;
Kegele, Josua
...
eBioMedicine. 84 (2022) - p. 104244 , 2022
Link:
https://doi.org/10.1016/..
?
9
An identical‐by‐descent novel splice‐donor variant inPRUNE1..:
Koko, Mahmoud
;
Yahia, Ashraf
;
Elsayed, Liena E.
...
Annals of Human Genetics. 85 (2021) 5 - p. 186-195 , 2021
Link:
https://doi.org/10.1111/..
?
10
Novel variants causing megalencephalic leukodystrophy in Su..:
Amin, Mutaz
;
Vignal, Cedric
;
Hamed, Ahlam A. A.
...
Journal of Human Genetics. 67 (2021) 3 - p. 127-132 , 2021
Link:
https://doi.org/10.1038/..
?
11
A SCN8A variant associated with severe early onset epilepsy..:
Liu, Yuanyuan
;
Koko, Mahmoud
;
Lerche, Holger
Epilepsy Research. 178 (2021) - p. 106824 , 2021
Link:
https://doi.org/10.1016/..
?
12
Distinct gene-set burden patterns underlie common generaliz..:
Koko, Mahmoud
;
Krause, Roland
;
Sander, Thomas
...
eBioMedicine. 72 (2021) - p. 103588 , 2021
Link:
https://doi.org/10.1016/..
?
13
KCND2 variants associated with global developmental delay d..:
Zhang, Yongqiang
;
Tachtsidis, Georgios
;
Schob, Claudia
...
Human Molecular Genetics. 30 (2021) 23 - p. 2300-2314 , 2021
Link:
https://doi.org/10.1093/..
?
14
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:
Yahia, Ashraf
;
Elsayed, Liena E. O.
;
Valter, Remi
...
Frontiers in Neurology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
15
Genetics of Paroxysmal Dyskinesia: Novel Variants Corrobora..:
Kegele, Josua
;
Krüger, Johanna
;
Koko, Mahmoud
...
Frontiers in Neurology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
1-15