Detalhe da pesquisa
1.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735298
2.
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Commun
; 2(2): fcaa162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585817
3.
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Eur J Med Genet
; 61(8): 442-450, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510240
4.
Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing.
Clin Chim Acta
; 454: 33-8, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26707914