Detalhe da pesquisa
1.
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Medicina (Kaunas)
; 59(1)2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36676727
2.
Microbial pollution in inland recreational freshwaters of Quetta, Pakistan: an initial report.
J Water Health
; 20(3): 575-588, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35350009
3.
Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
Mol Biol Rep
; 41(2): 1103-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24390236
4.
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.
Mol Syndromol
; 14(4): 293-302, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37766826
5.
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
Hum Genet
; 131(2): 209-16, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21761136
6.
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Mol Biol Rep
; 39(5): 6197-201, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22219087
7.
Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa, Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system.
Leg Med (Tokyo)
; 59: 102129, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944342
8.
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Mol Vis
; 17: 1940-5, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850168
9.
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Amyotroph Lateral Scler Frontotemporal Degener
; 17(3-4): 260-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751646
10.
Risk factors for lung cancer in the Pakistani population.
Asian Pac J Cancer Prev
; 15(7): 3035-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24815443
11.
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Eur J Med Genet
; 55(12): 727-31, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22989526
12.
Various aspects, patterns and risk factors in breast cancer patients of Balochistan.
Asian Pac J Cancer Prev
; 13(8): 4013-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23098509