Detalhe da pesquisa
1.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Ann Neurol
; 94(5): 825-835, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597255
2.
Increased paternal corticosterone exposure influences offspring behaviour and expression of urinary pheromones.
BMC Biol
; 21(1): 186, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667240
3.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
4.
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
EBioMedicine
; 81: 104079, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636315
5.
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649968
6.
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Neurology
; 96(18): e2251-e2260, 2021 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038384