Detalhe da pesquisa
1.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
2.
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
PLoS One
; 12(10): e0185713, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968464
3.
Dandy-walker malformation and down syndrome association: good developmental outcome and successful endoscopic treatment of hydrocephalus.
Case Rep Neurol
; 6(2): 156-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24932176