Detalhe da pesquisa
1.
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
2.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Am J Med Genet A
; 170(10): 2719-30, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338287
3.
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol
; 266(8): 1919-1926, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069529
4.
Application Of Karyotyping And Flourescent In Situ Hybridisation In Detection Of Klinefelter Syndrome
Artigo
| IMSEAR | ID: sea-198394
5.
Embryogenesis and types of subcostal hernia--a rare entity.
J Pediatr Surg
; 48(3): 533-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23480907
6.
Androgen insensitivity syndrome: ten years of our experience.
Front Biosci (Elite Ed)
; 5(2): 779-84, 2013 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23277032
7.
Spontaneous Expression Of Fragile Site at Xq27.3 In a Fragile X patient.
Indian J Hum Genet
; 1999 Jan; 5(1): 37-40
Artigo
em Inglês
| IMSEAR | ID: sea-159874