Detalhe da pesquisa
1.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Am J Hum Genet
; 103(6): 1022-1029, 2018 12 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30526861
2.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33144681
3.
Transcriptome analysis of a ring chromosome 20 patient cohort.
Epilepsia
; 62(1): e22-e28, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33207017
4.
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet
; 101(5): 664-685, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100083
5.
DNM1 encephalopathy: A new disease of vesicle fission.
Neurology
; 89(4): 385-394, 2017 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-28667181