Detalhe da pesquisa
1.
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
Clin Exp Dermatol
; 47(6): 1137-1143, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150007
2.
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1009-1018, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879837
3.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Am J Hum Genet
; 98(2): 331-8, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805784
4.
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
J Hum Genet
; 64(2): 153-160, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30498240
5.
Relationship of S/R warfarin ratio with CYP2C9 genotypes in Pakistani population.
Pak J Pharm Sci
; 32(4): 1581-1588, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608877
6.
Role of gut microbiota against calcium oxalate.
Microb Pathog
; 109: 287-291, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28624518
7.
Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet
; 66(10): 1019, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135457
8.
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
J Med Genet
; 52(10): 676-80, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26160856
9.
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.
Neurogenetics
; 16(4): 299-306, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26205306
10.
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
Ann Hum Genet
; 79(2): 92-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529316
11.
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
BMC Med Genet
; 15: 25, 2014 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24571530
12.
A novel WDR62 mutation causes primary microcephaly in a Pakistani family.
Mol Biol Rep
; 40(1): 591-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065275
13.
Cut-off values of anthropometric indices to determine insulin resistance in Pakistani adults.
J Pak Med Assoc
; 63(10): 1220-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24392548
14.
ß2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).
Immunobiology
; 225(3): 151938, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279896
15.
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Int J Biochem Cell Biol
; 102: 76-86, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30016695
16.
Disease causing homozygous variants in the human hairless gene.
Int J Dermatol
; 55(9): 977-81, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26680117
17.
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.
PLoS One
; 9(8): e104756, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25119526
18.
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.
J Dermatol Sci
; 80(3): 214-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481779
19.
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.
Hum Genet
; 121(3-4): 319-25, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17333281
20.
A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.
J Hum Genet
; 51(9): 760-764, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16900296