Detalles de la búsqueda
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740824
15.
The role of aspirin in preventing colorectal cancer.
Br Med Bull
; 119(1): 17-24, 2016 09.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37181409