Detalhe da pesquisa
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730490
2.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273913
3.
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
JIMD Rep
; 65(2): 85-101, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444573
4.
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
JIMD Rep
; 64(4): 265-273, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404680