Detalhe da pesquisa
1.
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
J Med Genet
; 59(1): 28-38, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33106379
2.
Bioinformatic and mutational studies of related toxin-antitoxin pairs in Mycobacterium tuberculosis predict and identify key functional residues.
J Biol Chem
; 294(23): 9048-9063, 2019 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31018964
3.
Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
Clin Genet
; 96(3): 271-273, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31286494
4.
Single-cell multiomics revealed the dynamics of antigen presentation, immune response and T cell activation in the COVID-19 positive and recovered individuals.
Front Immunol
; 13: 1034159, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36532041
5.
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.
Adv Genet (Hoboken)
; 3(2): 2100078, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36618024
6.
Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
Stem Cell Res
; 53: 102340, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33887582
7.
Respiratory Co-Infections: Modulators of SARS-CoV-2 Patients' Clinical Sub-Phenotype.
Front Microbiol
; 12: 653399, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34122366
8.
Integrated genomic view of SARS-CoV-2 in India.
Wellcome Open Res
; 5: 184, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32995557