Detalhe da pesquisa
1.
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Am J Med Genet A
; 185(5): 1606-1609, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569879
2.
SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.
Bone Rep
; 18: 101690, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425194
3.
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.
Eur J Med Genet
; 64(9): 104291, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34303877
4.
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Public Health Genomics
; 24(3-4): 139-148, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33823526