Detalhe da pesquisa
1.
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene.
Pediatr Nephrol
; 39(5): 1421-1425, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37985485
2.
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
Pediatr Nephrol
; 39(4): 1093-1104, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37914965
3.
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Neurogenetics
; 24(2): 113-127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790591
4.
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Prenat Diagn
; 43(5): 579-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964991
5.
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Am J Med Genet A
; 188(8): 2339-2350, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499143
6.
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Pediatr Nephrol
; 37(8): 1811-1836, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35006361
7.
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study.
World J Surg
; 46(3): 591-599, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859295
8.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Fetal Pediatr Pathol
; 41(6): 1041-1051, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821546
9.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502066
10.
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
11.
Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.
J Neurogenet
; 35(4): 370-380, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159894
12.
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program.
Am J Med Genet A
; 185(1): 274-277, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051992
13.
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Am J Med Genet A
; 185(8): 2345-2355, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942996
14.
Uptake of next-generation sequencing in children with end-stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation-Experience from a low resource setting: A Retrospective Cohort Study.
Pediatr Transplant
; 25(5): e13960, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368894
15.
Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis.
Indian J Med Res
; 158(3): 319-323, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861627
16.
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
Am J Med Genet A
; 173(1): 163-168, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27753269
17.
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
18.
Incessant left ventricular tachycardia of unusual etiology.
Indian Pacing Electrophysiol J
; 16(3): 104-106, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27788994
19.
A Defective Oxidative Burst and Impaired Antigen Presentation are Hallmarks of Human Visceral Leishmaniasis.
J Clin Immunol
; 35(1): 56-67, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25479930
20.
Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.
Am J Med Genet A
; 167A(8): 1927-31, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898978