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.
Patient-reported outcomes in inguinal hernia surgery-Results from the GENESIS study: A multinational multicenter study.
World J Surg
; 48(5): 1132-1138, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470413
3.
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
4.
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
5.
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
6.
Clinical and Health Economic Evaluation of a Novel Device for Fecal Management in Bedridden Patients.
Indian J Crit Care Med
; 27(10): 759-765, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908427
7.
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
8.
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
9.
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.
Hered Cancer Clin Pract
; 20(1): 36, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182917
10.
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial.
Lancet
; 395(10240): 1855-1863, 2020 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534647
11.
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
BMC Neurol
; 21(1): 469, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34856927
12.
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.
BMC Pediatr
; 21(1): 113, 2021 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33676444
13.
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnostics.
Hum Mutat
; 41(1): 332-341, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471937
14.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740824
15.
The role of aspirin in preventing colorectal cancer.
Br Med Bull
; 119(1): 17-24, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543497
16.
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
17.
Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.
Indian J Hum Genet
; 19(4): 415-22, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497706
18.
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
19.
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population.
Gene
; 852: 147070, 2023 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427680
20.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
EClinicalMedicine
; 58: 101909, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37181409