Detalhe da pesquisa
1.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
2.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(2): 357, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735662
3.
Acute intermittent porphyria, Rasmussen encephalitis, or both?
J Child Neurol
; 22(1): 99-105, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17608316
4.
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Eur J Hum Genet
; 24(1): 129-34, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25966631
5.
Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events.
Epilepsia
; 46(5): 716-9, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15857438