Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Genome-Based Therapeutics: Era of Precision Medicine in Genetic Epilepsies and Epileptic Encephalopathies.
Ann Indian Acad Neurol
; 26(5): 723-727, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38022486
3.
Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.
Clin Exp Med
; 23(8): 5399-5412, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898571
4.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv
; 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425688
5.
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Eur J Med Genet
; 64(12): 104369, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718183
6.
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
J Neurol
; 266(8): 1919-1926, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069529
7.
FUS positive juvenile ALS-diagnostic and therapeutic insights from a 16-year-old female patient.
Acta Neurol Belg
; 123(2): 637-639, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35290622
8.
Nasu-Hakola Disease - A Rare Type of Presenile Dementia.
Ann Indian Acad Neurol
; 25(4): 771-772, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36211168
9.
Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series.
Ann Indian Acad Neurol
; 24(3): 449-450, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34447023
10.
Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.
Genet Res Int
; 2016: 9872594, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27069690
11.
Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
J Invest Dermatol
; 135(2): 615-618, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25229252