Detalhe da pesquisa
1.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet
; 31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137044
2.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Brain
; 145(7): 2313-2331, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35786744
3.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Dev Med Child Neurol
; 65(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701389
4.
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Neurol Genet
; 3(4): e163, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28717674