Detalhe da pesquisa
1.
Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family.
Mol Biol Rep
; 51(1): 104, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224417
2.
Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study.
Mol Biol Rep
; 50(10): 8049-8059, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541996
3.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Hum Mol Genet
; 27(5): 780-798, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293958
4.
Association of hepatocyte growth factor gene polymorphisms with primary angle closure glaucoma from Lahore, Pakistan.
J Pak Med Assoc
; 70(2): 208-212, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063608
5.
Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.
J Pak Med Assoc
; 68(8): 1205-1211, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108387
6.
Genetic causes of moderate to severe hearing loss point to modifiers.
Clin Genet
; 91(4): 589-598, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27573290
7.
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
Eur Arch Otorhinolaryngol
; 272(8): 2071-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25636251
8.
Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.
Pak J Med Sci
; 30(6): 1341-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25674135
9.
SLC26A4 mutations in patients with moderate to severe hearing loss.
Biochem Genet
; 51(7-8): 514-23, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23504402
10.
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan.
Biochem Genet
; 51(5-6): 350-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23340767
11.
Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.
Genes (Basel)
; 14(2)2023 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833236
12.
Mutations in CLDN14 are associated with different hearing thresholds.
J Hum Genet
; 55(11): 767-70, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20811388
13.
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Sci Rep
; 10(1): 11902, 2020 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681043
14.
Optimizing factors for the efficient expression and purification of spao and lamb from Salmonella typhi
Biosci. j. (Online)
; 38: e38084, Jan.-Dec. 2022. ilus, tab
Artigo
em Inglês
| LILACS | ID: biblio-1397167
15.
Microbiological Load of Ethylene Oxide Sterilized Medical Devices and its Elimination by Cobalt 60 Source.
J Coll Physicians Surg Pak
; 26(6): 486-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27353985
16.
Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma.
Gene
; 570(2): 295-8, 2015 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26164761
17.
Evaluation of antioxidant and antimicrobial potential of two endangered plant species Atropa belladonna and Matricaria chamomilla.
Afr J Tradit Complement Altern Med
; 11(5): 111-7, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395714
18.
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss.
Eur J Med Genet
; 55(2): 99-102, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22245518