Found: 12
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Transforming Growth Factor β-1 -509C>T Polymorphism in Indian Patients with Primary Open Angle Glaucoma.
- Published in:
- Molecular Diagnosis & Therapy, 2007, v. 11, n. 3, p. 151, doi. 10.1007/BF03256236
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- Publication type:
- Article
Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India.
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- Molecular Vision, 2021, v. 27, p. 718
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- Publication type:
- Article
Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 443, doi. 10.1111/cge.14398
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- Publication type:
- Article
Association of HERPUD1 genetic variant rs2217332 with age-related macular degeneration and polypoidal choroidal vasculopathy in an Indian cohort.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 4, p. 1205, doi. 10.1007/s00417-022-05861-w
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- Publication type:
- Article
Leber hereditary optic neuropathy—new insights and old challenges.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 9, p. 2461, doi. 10.1007/s00417-020-04993-1
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- Publication type:
- Article
Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
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- Indian Journal of Ophthalmology, 2023, v. 71, n. 6, p. 2512, doi. 10.4103/IJO.IJO_2579_22
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- Publication type:
- Article
Genetic testing in four Indian families with suspected Stickler syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 447, doi. 10.1007/s00439-018-1897-9
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- Publication type:
- Article
Screening for mutation hotspots in Bardet–Biedl syndrome patients from India.
- Published in:
- Indian Journal of Medical Research, 2018, v. 147, n. 2, p. 177, doi. 10.4103/ijmr.IJMR_1822_15
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- Publication type:
- Article
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00143-z
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- Publication type:
- Article
A common variant near TGFBR3 is associated with primary open angle glaucoma.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3880, doi. 10.1093/hmg/ddv128
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- Publication type:
- Article
Genetic Association of SNPs near ATOH7, CARD10, CDKN2B, CDC7 and SIX1/SIX6 with the Endophenotypes of Primary Open Angle Glaucoma in Indian Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119703
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- Publication type:
- Article