Detalhe da pesquisa
1.
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
J Hum Genet
; 64(9): 859-865, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273323
2.
Isolation of sinapic acid from broccoli using molecularly imprinted polymers.
J Sep Sci
; 41(5): 1164-1172, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29239525
3.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Brain
; 143(4): e31, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227164
4.
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Metab Brain Dis
; 31(5): 1171-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27389245
5.
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Eur J Hum Genet
; 31(10): 1108-1116, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433892
6.
GGPS1-associated muscular dystrophy with and without hearing loss.
Ann Clin Transl Neurol
; 9(9): 1465-1474, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869884
7.
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Eur J Hum Genet
; 29(6): 957-964, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824466