Detalhe da pesquisa
1.
New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.
Pediatr Nephrol
; 39(7): 2099-2104, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294522
2.
High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
Nephrology (Carlton)
; 27(3): 231-237, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796567
3.
SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.
Neurol Sci
; 41(9): 2575-2584, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32249332
4.
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.
Indian J Med Res
; 145(4): 471-478, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28862178
5.
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Am J Med Genet A
; 170A(2): 410-417, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601801
6.
Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability.
Indian J Med Res
; 142(6): 699-712, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26831419
7.
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.
Am J Med Genet A
; 164A(1): 186-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214579
8.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 164A(11): 2793-801, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252036
9.
Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report.
Haemophilia
; 24(6): e425-e427, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30299569
10.
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.
Am J Med Genet A
; 155A(11): 2788-90, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21964995
11.
Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners.
Prenat Diagn
; 31(13): 1286-91, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22030841
12.
A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.
Indian J Gastroenterol
; 40(1): 72-76, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428121
13.
Effect of dentin biomodification techniques on the stability of the bonded interface.
J Conserv Dent
; 24(3): 265-270, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35035152
14.
Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
Indian J Nephrol
; 31(2): 182-186, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267444
15.
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Endocrine
; 71(1): 189-198, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948948
16.
Prenatal diagnosis in India is not limited to sex selection.
Genet Med
; 17(1): 88, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356971
17.
Atypical HUS Associated with CFH/CFHR-1 Hybrid Gene.
Indian J Nephrol
; 30(5): 342-345, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707824
18.
Detection of a novel mutation in the rpoB gene in a multidrug resistant Mycobacterium tuberculosis isolate using whole genome next generation sequencing.
J Glob Antimicrob Resist
; 22: 270-274, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32200129
19.
A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.
Indian J Pediatr
; 87(2): 105-110, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31925720
20.
A Novel Phosphoinositide-3-kinase Adapter Protein 1 Gene Missense Mutation in Familial Cirrhosis.
J Clin Exp Hepatol
; 9(5): 652-656, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31695254