Search details
1.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36413998
2.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Neurology
; 101(9): e879-e891, 2023 08 29.
Article
in English
| MEDLINE | ID: mdl-37407264
Results
1 -
2
de 2
1
Next >
>>