Detalhe da pesquisa
1.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
J Neurol Neurosurg Psychiatry
; 94(10): 806-815, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37225406
2.
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med
; 20(1): 98-108, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28661489
3.
De novo GABRG2 mutations associated with epileptic encephalopathies.
Brain
; 140(1): 49-67, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27864268
4.
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines
; 8(11)2020 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-33126500
5.
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Ann Clin Transl Neurol
; 6(4): 655-668, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31019990