Detalhe da pesquisa
1.
The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
J Pak Med Assoc
; 73(8): 1610-1621, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697751
2.
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Fetal Pediatr Pathol
; 39(5): 430-440, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31584309
3.
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
Turk J Gastroenterol
; 34(10): 1088-1098, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603299
4.
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
BMC Med Genomics
; 14(1): 266, 2021 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34772415
5.
Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
J Pediatr Endocrinol Metab
; 33(9): 1117-1123, 2020 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32697758
6.
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
J Pediatr Endocrinol Metab
; 32(11): 1221-1227, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31473686
7.
Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.
J Pediatr Endocrinol Metab
; 30(11): 1203-1210, 2017 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016355
8.
Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
J Pediatr Endocrinol Metab
; 29(3): 327-32, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26565546