Detalhe da pesquisa
1.
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
J Hum Genet
; 64(4): 323-331, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674982
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.
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
Neuromuscul Disord
; 26(11): 809-814, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27521129
4.
Recurrent and novel GLB1 mutations in India.
Gene
; 567(2): 173-81, 2015 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25936995
5.
Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.
Indian J Pediatr
; 83(4): 354-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26104111