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  1. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander .... 
    https://www.ncbi.nlm.nih.gov/books/NBK551090
    ... AR = autosomal recessive; MOI = mode of inheritance; RP = retinitis pigmentosa 1. Does not conform to standard HGVS ... Bull LN, van Eijk MJT, Pawlikowska L, DeYoung ...
  2. Usher Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1265
    ... Khateb et al 2012 ] HL = hearing loss; RP = retinitis ... See Quick Reference for an explanation of nomenclature. 1. Genes from ...
  3. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an ... (retinitis pigmentosa GTPase regulator) interacting domain, and a centrosomal protein- ...
  4. Mucopolysaccharidosis Type III - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546574
    ... 3. See Genotype-Phenotype Correlations . 4. See Prevalence . ... MJ. Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. ...
  5. NLM Digital Collections - Annual report - National Eye Institute (1981) 
    Publication: [Bethesda, Md.] : National Eye Institute
    resource.nlm.nih.gov/7802080X10
    ... acid. Neurosci Lett 21:307-312, 1981. 28 References cont . 26. Edwards RB : Studies of cultured human retinal pigment epithelium from normal donors and a patient with retinitis pigmentosa. Proc Int Soc Eye Res 1, 1981. 27. ...
  6. NLM Digital Collections - A reference handbook of the medical sciences: embracing the entire range of scientific and ... 
    Publication: New York : Wood, 1885-1893
    resource.nlm.nih.gov/31830700RX1
    ... to cause its complete disappearance. 793 Cataract. Cataract. REFERENCE HANDBOOK OF THE MEDICAL SCIENCES. Cataract Occurring in Connection with Separation of the Retina, Retinitis Pigmentosa, or Disease of the Choroid.- Here we have ...
  7. Mitochondrial Diseases 
    https://medlineplus.gov/mitochondrialdiseases.html
    Mitochondria make energy for your cells. Diseases can affect mitochondria, often causing nerve and muscle problems. Find out more. ... Metabolism is the process your ...
  8. Retinal Disorders 
    https://medlineplus.gov/retinaldisorders.html
    The retina is a layer of tissue in the back of your eye. It senses light and sends images to your brain. Learn about retinal disorders and treatments. ...
  9. Effects of Omega-3 Fatty Acids on Eye Health: Summary - AHRQ Evidence Report Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11888
    ... patients with cataracts? Degenerative Diseases of the Retina—Retinitis Pigmentosa (RP) What is the evidence for efficacy of ... trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa. Am J Ophthalmol. 2004; 137 (4):704–18. [ ...
  10. Adult Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... genomic testing (see Option 2 ). Option 1. A retinitis pigmentosa multigene panel that includes both the PHYH and ... late teens, 20s, or even later. Disorders w/retinitis pigmentosa (RP) ± sensorineural hearing loss (SNHL) ~90 genes 4 ...
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