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105 results

  1. SYNGAP1-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK537721
    ... posted live 23 October 2017 (jm) Original submission References Literature Cited Berryer MH, Hamdan FF, Klitten LL, ... Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray ...
  2. Multiple Endocrine Neoplasia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1257
    ... Review posted live October 1998 (gw) Original submission References Published Guidelines / Consensus Statements National Comprehensive Cancer Network. ... PubMed : 31600997 ] Bartsch DK, Hasse C, Schug C, Barth P, Rothmund M, Höppner W. A RET double ...
  3. No-Touch Modalities for Disinfecting Patient Rooms in Acute Care Settings - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK563017
    ... isolation precautions) that potentially could affect infection rates. References 1. COVID-19 dashboard by the Center for ... PubMed : 29181495 ] [ CrossRef ] 24. Sampathkumar P, Folkert C, Barth JE, et al. A trial of pulsed xenon ...
  4. Excluded studies - Stroke Rehabilitation - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327898
    ... injury 2012 Review - but not a systematic review Reference List 1. Canadian best practice recommendations for stroke ... including diplopia be best managed after a stroke? Reference List Other titles in this collection National Institute ...
  5. DYNC1H1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601997
    ... posted live 21 February 2023 (hsd) Original submission References Literature Cited Amabile S, Jeffries L, McGrath JM, ... Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, ...
  6. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... al [2018] 13 December 2018 (sw) Initial posting References Aksentijevich I, Torosyan Y, Samuels J, Centola M, ... EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi ...
  7. DCX-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1185
    ... posted live 31 March 2006 (jw) Original submission References Literature Cited Aigner L, Uyanik G, Couillard-Despres ... Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, ...
  8. SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK379665
    ... posted live 29 September 2015 (mfh) Original submission References Literature Cited Alagia M, Bernardo P, Genesio R, ... H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M. Clinical study of ...
  9. Multiple Endocrine Neoplasia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1538
    ... posted live 9 September 2004 (mlb) Original submission References Published Guidelines / Consensus Statements Thakker RV, Newey PJ, ... A, Müller HH, Schade-Brittinger C, Klose KJ, Barth P, Wied M, Mayer C, Aminossadati B, Pape ...
  10. Arylsulfatase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1130
    ... posted live 15 November 2004 (mf) Original submission References Published Guidelines / Consensus Statements Wang RY, Bodamer OA, ... article : PMC7051299 ] [ PubMed : 19797797 ] Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, Wilds ...
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