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1.
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.
Neurogenetics
; 25(1): 13-25, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37917284
2.
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Clin Genet
; 96(6): 566-574, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31429931
3.
A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.
Ann Hum Genet
; 81(5): 197-204, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28597910
4.
Association between Interleukin-10 -1082G/A Gene Polymorphism and Risk of Stroke in the North Indian Population: A Case-Control Study.
J Stroke Cerebrovasc Dis
; 25(2): 461-8, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26654671
5.
Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.
Hum Genome Var
; 11(1): 25, 2024 Jun 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38871700
6.
Association of genetic polymorphism of interleukin 1-alpha and interleukin 1-beta with external apical root resorption in orthodontic patients.
Int Orthod
; 22(2): 100869, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38513309
7.
SARS-CoV-2 Lineage Tracking, and Evolving Trends Seen during Three Consecutive Peaks of Infection in Delhi, India: a Clinico-Genomic Study.
Microbiol Spectr
; 10(2): e0272921, 2022 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35311567
8.
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.
Adv Genet (Hoboken)
; 3(2): 2100078, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36618024
9.
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
Brain Commun
; 3(1): fcaa214, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33501421
10.
Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
J Huntingtons Dis
; 9(3): 283-289, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32675418
11.
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.
Neurobiol Aging
; 88: 156.e1-156.e9, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32035847
12.
Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.
eNeurologicalSci
; 17: 100211, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31737797
13.
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency.
Sex Dev
; 13(5-6): 228-239, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-32894851
14.
Evidence of early community transmission of Omicron (B1.1.529) in Delhi- A city with very high seropositivity and past-exposure.
Travel Med Infect Dis
; 46: 102276, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35181557
15.
Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India.
J Neurol Sci
; 373: 55-57, 2017 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28131227
16.
Association between interleukin-6 (G174C and C572G) promoter gene polymorphisms and risk of ischemic stroke in North Indian population: a case-control study.
Neurol Res
; 38(1): 69-74, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26883819
17.
Tumor necrosis factor-alpha (- 308G/A, + 488G/A, - 857C/T and -1031 T/C) gene polymorphisms and risk of ischemic stroke in north Indian population: A hospital based case-control study.
Meta Gene
; 7: 34-9, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26862479
18.
Identification of FXTAS presenting with SCA 12 like phenotype in India.
Parkinsonism Relat Disord
; 20(10): 1089-93, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25085749
19.
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