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481 results
  1. Cockayne Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1342
    ... Review posted live June 2000 (mn) Original submission References Literature Cited Baer S, Tuzin N, Kang PB, ...
  2. Usher Syndrome Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1341
    ... posted live 19 February 1999 (wk) Original submission References Published Guidelines / Consensus Statements American College of Medical ... T, Bolz HJ. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J ...
  3. GP access to radiology - Emergency and acute medical care in over 16s: service delivery and organisation - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK564919
    ... which lay outside the expertise of individual GPs. References 1. Apthorp LA, Daly CA, Morrison ID, Field ... for the remote diagnosis and management of diabetic retinopathy. Telemedicine Journal and E-Health. 2011; 17(8): ...
  4. CTNNB1 Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580527
    ... posted live 17 November 2021 (sh) Original submission References Literature Cited Coussa RG, Zhao Y, DeBenedictis MJ, ... C, Sands TT. GeneReviews(®). 1993 Review NDP-Related Retinopathies. [GeneReviews(®). 1993] Review NDP-Related Retinopathies. Scruggs BA, ...
  5. GNB5-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573218
    ... posted live 19 March 2021 (gp) Initial submission References Literature Cited De Nittis P, Efthymiou S, Sarre ...
  6. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK549574
    ... that does not conform to current naming conventions References Literature Cited Al-Gazali L, Ali BR. Mutations ... Moore AT, Webster AR. The clinical features of retinal disease due to a dominant mutation in RPE65. Mol ...
  7. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... public domain in the United States of America. References Literature Cited Alter BP, Giri N, Savage SA, ... Fletcher S, al Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a ...
  8. Mucolipidosis IV - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1214
    ... posted live 16 August 2004 (rs) Original submission References Literature Cited Altarescu G, Sun M, Moore DF, ...
  9. PNPLA6 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247161
    ... posted live 29 May 2014 (ms) Original submission References Literature Cited Atkins J, Luthjens LH, Hom ML, ...
  10. Mucopolysaccharidosis Type IVA - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148668
    ... posted live 18 January 2013 (pt) Original Submission References Literature Cited Akyol MU, Alden TD, Amartino H, ...
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