Detalhe da pesquisa
1.
Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.
Mol Biol Rep
; 50(9): 7935-7939, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470964
2.
Antecedent infections, recent developments and future directions in Guillain-Barré syndrome.
J Pak Med Assoc
; 73(1): 117-124, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36842019
3.
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC Musculoskelet Disord
; 23(1): 818, 2022 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36042462
4.
Study of Guillain-Barre syndrome etiology in Pakistani patients.
J Pak Med Assoc
; 71(11): 2539-2542, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34783733
5.
Clinical and biochemical profile of Guillain Barré Syndrome in Pakistan.
Neurosciences (Riyadh)
; 26(3): 242-247, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230078
6.
Direct-acting antiviral agents in the treatment of chronic hepatitis C-Real-life experience from clinical practices in Pakistan.
J Med Virol
; 92(12): 3475-3487, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129507
7.
REPORT - CYP2D6*4 null allele frequency in sixteen Pakistani ethnic groups.
Pak J Pharm Sci
; 33(2): 739-743, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276921
8.
Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
J Biomed Sci
; 26(1): 31, 2019 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31030663
9.
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
J Biomed Sci
; 25(1): 82, 2018 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447692
10.
Genetics of vascular dementia - review from the ICVD working group.
BMC Med
; 15(1): 48, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28260527
11.
Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
BMC Med Genet
; 18(1): 148, 2017 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237407
12.
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
J Hum Genet
; 59(12): 683-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296581
13.
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
J Hum Genet
; 58(12): 819-21, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24172246
14.
Study of PKRBD in HCV genotype 3a infected patients in response to interferon therapy in Pakistani population.
Virol J
; 10: 352, 2013 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-24321105
15.
Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family.
J Biomol Struct Dyn
; : 1-12, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345548
16.
Case report: Expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease.
Front Neurol
; 13: 1017654, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341116
17.
Genome sequencing and analysis of genomic diversity in the locally transmitted SARS-CoV-2 in Pakistan.
Transbound Emerg Dis
; 69(5): e2418-e2430, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510932
18.
Occult HCV or delayed viral clearance from lymphocytes of Chronic HCV genotype 3 patients after interferon therapy.
Genet Vaccines Ther
; 9(1): 14, 2011 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892969
19.
Patient HLA-DRB1* and -DQB1* allele and haplotype association with hepatitis C virus persistence and clearance.
J Gen Virol
; 91(Pt 8): 1931-1938, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20392899
20.
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Eur J Med Genet
; 63(8): 103954, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413570