Detalhe da pesquisa
1.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33150406
2.
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
J Med Genet
; 53(5): 310-7, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26993267
3.
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Mol Genet Metab
; 117(1): 42-8, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26647175
4.
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Dev Med Child Neurol
; 58(4): 416-20, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26645412
5.
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
Am J Med Genet A
; 167A(12): 3096-102, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26364767
6.
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Prenat Diagn
; 35(10): 1010-7, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26275891
7.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Hum Mutat
; 33(6): 981-8, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22473935
8.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
; 90(1): e55-e66, 2018 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29196579
9.
Delineation of the movement disorders associated with FOXG1 mutations.
Neurology
; 86(19): 1794-800, 2016 05 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27029630