Detalhe da pesquisa
1.
SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
Mol Biol Rep
; 48(11): 7467-7476, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637099
2.
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Front Genet
; 14: 1128850, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37091798
3.
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
Front Genet
; 14: 1254909, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772257
4.
IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
Congenit Anom (Kyoto)
; 60(4): 126-127, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400021