Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Epilepsy Behav
; 145: 109266, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385119
3.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
4.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
5.
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
Eur J Pediatr
; 172(9): 1277-81, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358709
6.
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Sci Rep
; 6: 30072, 2016 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436767