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.
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.
BMC Neurol
; 23(1): 20, 2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647078
3.
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
BMC Neurol
; 23(1): 292, 2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37543562
4.
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
BMC Pediatr
; 23(1): 133, 2023 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959582
5.
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
BMC Genomics
; 23(1): 458, 2022 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729508
6.
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.
BMC Pediatr
; 22(1): 78, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35114981
7.
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
8.
Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Mol Biol Rep
; 48(2): 1607-1614, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528728
9.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651481
10.
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
BMC Med Genet
; 20(1): 31, 2019 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764785
11.
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
J Hum Genet
; 64(10): 985-994, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388111
12.
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.
BMC Pediatr
; 19(1): 73, 2019 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849948
13.
A case of Raine syndrome presenting with facial dysmorphy and review of literature.
BMC Med Genet
; 19(1): 76, 2018 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751744
14.
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
BMC Med Genet
; 19(1): 109, 2018 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973161
15.
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
BMC Med Genet
; 19(1): 178, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285649
16.
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
BMC Neurol
; 18(1): 203, 2018 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541466
17.
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
BMC Med Genet
; 18(1): 5, 2017 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095804
18.
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
Am J Med Genet A
; 173(4): 1041-1046, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28181389
19.
Rapid molecular identification of a rare ß-globin gene deletion & its clinical implication.
Indian J Med Res
; 155(3&4): 432-437, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124516
20.
Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
J Hum Genet
; 61(2): 163-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582265