Detalhe da pesquisa
1.
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.
Clin Genet
; 105(4): 453-454, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38072398
2.
The Genetic Drivers of Juvenile, Young, and Early-Onset Parkinson's Disease in India.
Mov Disord
; 39(2): 339-349, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014556
3.
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
J Med Genet
; 60(2): 204-211, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477554
4.
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
J Med Genet
; 60(8): 801-809, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894310
5.
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Neurogenetics
; 24(1): 43-53, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580222
6.
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Neurogenetics
; 23(3): 187-202, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416532
7.
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Ann Hum Genet
; 86(5): 245-256, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451063
8.
Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.
Can J Neurol Sci
; 49(1): 93-101, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33685545
9.
Phenotypic variability in distal acidification defects associated with WDR72 mutations.
Pediatr Nephrol
; 36(4): 881-887, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033857
10.
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
Hum Mutat
; 35(1): 41-4, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115387
11.
Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
Indian J Dermatol Venereol Leprol
; 89(6): 819-827, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067103
12.
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.
Brain Commun
; 5(5): fcad243, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38074073
13.
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
Sci Rep
; 13(1): 15095, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37699968
14.
A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus.
J Clin Exp Hepatol
; 12(2): 701-704, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535055
15.
Metabolic and Genetic Evaluation in Children with Nephrolithiasis.
Indian J Pediatr
; 89(12): 1243-1250, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819704
16.
Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.
Adv Biol (Weinh)
; 6(11): e2101326, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810474
17.
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.
J Clin Neurol
; 17(3): 409-418, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184449
18.
Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.
Epilepsy Behav Rep
; 14: 100397, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33196034
19.
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Mol Genet Genomic Med
; 6(2): 282-287, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271071
20.
Oculogyric Crisis Phenotype of Levodopa-Induced Ocular Dyskinesia.
Mov Disord Clin Pract
; 9(3): 390-393, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36989007