Detalhe da pesquisa
1.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Am J Hum Genet
; 108(1): 176-185, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245860
2.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
3.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
4.
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Epilepsia
; 58(4): 565-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28166369
5.
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
Epilepsy Res
; 140: 166-170, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367179
6.
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
Nat Genet
; 48(11): 1349-1358, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694961
7.
Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].
Epilepsy Res
; 147: 121, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30104120