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TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin.
- Published in:
- Journal of Genetics, 2016, v. 95, n. 2, p. 459, doi. 10.1007/s12041-016-0637-y
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- Article
Cosegregation of a Factor VIII Microsatellite Marker with Mild Hemophilia A in Golden Retriever Dogs.
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- Journal of Veterinary Internal Medicine, 2005, v. 19, n. 2, p. 205, doi. 10.1111/j.1939-1676.2005.tb02683.x
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- Publication type:
- Article
Gene therapy restores vision in a canine model of childhood blindness.
- Published in:
- Nature Genetics, 2001, v. 28, n. 1, p. 92, doi. 10.1038/88327
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- Article
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
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- Journal of Molecular Neuroscience, 2021, v. 71, n. 2, p. 325, doi. 10.1007/s12031-020-01653-1
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- Publication type:
- Article
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
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- Journal of Molecular Neuroscience, 2019, v. 68, n. 2, p. 214, doi. 10.1007/s12031-019-01301-3
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- Publication type:
- Article
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
- Published in:
- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0177-6
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- Publication type:
- Article
Role of Apolipoprotein E, Cathepsin D, and Brain-Derived Neurotrophic Factor in Parkinson's Disease: A Study from Eastern India.
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- NeuroMolecular Medicine, 2019, v. 21, n. 3, p. 287, doi. 10.1007/s12017-019-08548-4
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- Publication type:
- Article
Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson’s Disease.
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- NeuroMolecular Medicine, 2018, v. 20, n. 3, p. 401, doi. 10.1007/s12017-018-8501-2
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- Publication type:
- Article
Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort.
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- Disease Markers, 2012, v. 32, n. 6, p. 355, doi. 10.1155/2012/895065
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- Publication type:
- Article
DJ-1 variants in Indian Parkinson's disease patients.
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- Disease Markers, 2012, v. 33, n. 3, p. 127, doi. 10.1155/2012/467085
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- Publication type:
- Article
Influence of <italic>Apolipoprotein E</italic> polymorphism on susceptibility of Wilson disease.
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- Annals of Human Genetics, 2018, v. 82, n. 2, p. 53, doi. 10.1111/ahg.12223
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- Publication type:
- Article
Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with DYT-THAP1 (DYT-6) Dystonia from India.
- Published in:
- 2022
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- Publication type:
- Letter to the Editor
Association of APOE gene polymorphism with stroke patients from rural Eastern India.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 4, p. 504, doi. 10.4103/aian.AIAN_45_19
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- Publication type:
- Article
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-70366-7
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- Publication type:
- Article
Genetic Polymorphisms in and Risk for Parkinson's Disease Among Eastern Indians.
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- 2022
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- Publication type:
- journal article
Mitochondrial DNA Haplogroups and Three Independent Polymorphisms have no Association with the Risk of Parkinson's Disease in East Indian Population.
- Published in:
- 2021
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- Publication type:
- journal article
Primary generalized dystonia due to TOR1A ΔGAG mutation in an Indian family with intrafamilial clinical heterogeneity.
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- 2019
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- Publication type:
- Case Study
Movement disorders: Indian scenario: A clinico-genetic review.
- Published in:
- Neurology India, 2013, v. 61, n. 5, p. 457, doi. 10.4103/0028-3886.121908
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- Publication type:
- Article
Dopamine β hydroxylase (DBH) polymorphisms do not contribute towards the clinical course of Wilson's disease in Indian patients.
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- Journal of Gene Medicine, 2019, v. 21, n. 9, p. N.PAG, doi. 10.1002/jgm.3109
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- Publication type:
- Article
Missing heritability of Wilson disease: a search for the uncharacterized mutations.
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- Mammalian Genome, 2023, v. 34, n. 1, p. 1, doi. 10.1007/s00335-022-09971-y
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- Publication type:
- Article
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.
- Published in:
- Mammalian Genome, 2003, v. 14, n. 11, p. 788, doi. 10.1007/s00335-003-2290-z
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- Publication type:
- Article
Evaluation of Genetic Association of the INK4 Locus with Primary Open Angle Glaucoma in East Indian Population.
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- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05115
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- Publication type:
- Article
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
- Published in:
- Journal of Neural Transmission, 2012, v. 119, n. 11, p. 1343, doi. 10.1007/s00702-012-0777-z
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- Publication type:
- Article
Role of LRRK2 variant p.Gly2019Ser in patients with Parkinsonism.
- Published in:
- Indian Journal of Medical Research, 2020, v. 151, n. 6, p. 592, doi. 10.4103/ijmr.IJMR_25_18
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- Publication type:
- Article