Detalhe da pesquisa
1.
Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.
Sci Rep
; 13(1): 7852, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188759
2.
Redefining the polypill: pros and cons in cardiovascular precision medicine.
Front Pharmacol
; 14: 1268119, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37799963
3.
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Front Genet
; 11: 415, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32425985
4.
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.
Mitochondrion
; 46: 209-213, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29929013
5.
Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population.
Diabetes Res Clin Pract
; 126: 160-163, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28258026
6.
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
Sci Rep
; 7(1): 4834, 2017 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28680084
7.
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.
Sci Rep
; 6: 27684, 2016 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27291587
8.
Single nucleotide polymorphisms of ADRB2 gene and their association with susceptibility for Plasmodium falciparum malaria and asthma in an Indian population.
Infect Genet Evol
; 20: 140-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24012958
9.
Evidence for genetic linkage between a polymorphism in the GNAS gene and malaria in South Indian population.
Acta Trop
; 128(3): 571-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23962387