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1.
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
J Hepatol
; 67(6): 1253-1264, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28733223
2.
Research priorities in Maternal, Newborn, & Child Health & Nutrition for India: An Indian Council of Medical Research-INCLEN Initiative.
Indian J Med Res
; 145(5): 611-622, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28948951
3.
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Clin Genet
; 90(6): 496-508, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27146977
4.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 164A(11): 2793-801, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25252036
5.
Primary immunodeficiency disorders in the developing world: data from a hospital-based registry in India.
Pediatr Hematol Oncol
; 31(3): 207-11, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-23758260
6.
Prevalence of CYP2C8 polymorphisms in a North Indian population.
Genet Mol Res
; 12(3): 2260-6, 2013 Jul 08.
Article
in English
| MEDLINE | ID: mdl-23884769
7.
Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.
Indian J Pediatr
; 89(11): 1137-1139, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35925544
8.
Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
Indian Pediatr
; 59(6): 463-466, 2022 06 15.
Article
in English
| MEDLINE | ID: mdl-35695141
9.
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Eur J Med Genet
; 65(10): 104595, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36007841
10.
Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise.
Orphanet J Rare Dis
; 17(1): 87, 2022 04 04.
Article
in English
| MEDLINE | ID: mdl-35369888
11.
Molecular studies in familial dilated cardiomyopathy - A pilot study.
Int J Cardiol Heart Vasc
; 40: 101023, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35463915
12.
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
Indian J Med Res
; 134: 483-6, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-22089611
13.
Utility of molecular studies in incontinentia pigmenti patients.
Indian J Med Res
; 133: 442-5, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21537100
14.
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.
Clin Chim Acta
; 521: 177-190, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34280392
15.
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.
Clin Biochem
; 89: 14-37, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33301762
16.
Mutation and Phenotypic Spectrum of Patients With RASopathies.
Indian Pediatr
; 58(1): 30-33, 2021 01 15.
Article
in English
| MEDLINE | ID: mdl-33452774
17.
Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.
J Obstet Gynaecol India
; 71(2): 156-167, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-34149218
18.
The fatal fetal tumor: a geneticist's perspective.
J Matern Fetal Neonatal Med
; 34(6): 1006-1008, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-31113261
19.
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
J Appl Genet
; 51(1): 107-10, 2010.
Article
in English
| MEDLINE | ID: mdl-20145307
20.
Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India.
Indian Heart J
; 71(2): 118-122, 2019.
Article
in English
| MEDLINE | ID: mdl-31280822