Detalles de la búsqueda
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.
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
Cleft Palate Craniofac J;
59(11): 1329-1339, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34787502
3.
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Neurogenetics;
22(4): 271-285, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34333724
4.
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Hum Mutat;
41(11): 1833-1847, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906206
5.
An Indian child with Coats plus syndrome due to mutations in STN1.
Am J Med Genet A;
182(9): 2139-2144, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32627942
6.
A combine approach of chemical synthesis, biological evaluation and structural dynamics studies revealed thiazole substituted arylamine derivatives as potent FabH enzyme inhibitors.
Bioorg Chem;
105: 104426, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33161255
7.
Modification of Bischler-Möhlau indole derivatives through palladium catalyzed Suzuki reaction as effective cholinesterase inhibitors, their kinetic and molecular docking studies.
Bioorg Chem;
76: 166-176, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29175588
8.
Rhodium-Catalyzed Regioselective Domino Azlactone-Alkyne Coupling/Aza-Cope Rearrangement: Facile Access to 2-Allyl-3-oxazolin-5-ones and Trisubstituted Pyridines.
Angew Chem Int Ed Engl;
56(29): 8422-8425, 2017 07 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28514115
9.
Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
Clin Genet;
96(3): 271-273, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31286494
10.
Characterisation of the nuclear proteome of a dehydration-sensitive cultivar of chickpea and comparative proteomic analysis with a tolerant cultivar.
Proteomics;
13(12-13): 1973-92, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23798506
11.
Mutational dynamics across VOCs in International travellers and Community transmission underscores importance of Spike-ACE2 interaction.
Microbiol Res;
262: 127099, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-35779308
12.
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
13.
Antilithiatic activity of a non-pharmacopoeial Unani formulation in chemically induced urolithiasis in rats.
J Complement Integr Med;
18(4): 685-694, 2021 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33971694
14.
Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.
Indian Pediatr;
58(5): 445-451, 2021 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33980730
15.
Computational and biological studies of novel thiazolyl coumarin derivatives synthesized through Suzuki coupling.
Turk J Chem;
44(6): 1610-1622, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33488257
16.
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
17.
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
18.
Transcriptional regulation of chickpea ferritin CaFer1 influences its role in iron homeostasis and stress response.
J Plant Physiol;
222: 9-16, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29304382
19.
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.
Mol Genet Metab Rep;
15: 124-126, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30023302
20.
Chemo-, Regio-, and Enantioselective Rhodium-Catalyzed Allylation of Pyridazinones with Terminal Allenes.
Org Lett;
19(9): 2326-2329, 2017 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28422507