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105 results

  1. Calpainopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1313
    ... posted live 29 November 2004 (ca) Original submission References Literature Cited Anderson LV, Davison K, Moss JA, ... article : PMC1770017 ] [ PubMed : 12890817 ] van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, ...
  2. Collagen VI-Related Dystrophies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1503
    ... public domain in the United States of America. References Literature Cited Aguti S, Bolduc V, Ala P, ... 113–5. [ PubMed : 8782832 ] Jöbsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly ...
  3. Primary Hyperoxaluria Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1283
    ... posted live 4 January 2002 (rmh) Original submission References Literature Cited Al-Abadi E, Hulton SA. Extracorporal ... Groothoff JW, Wijburg FA, Duran M, Wanders RJA, Barth PG, Poll-The BT. High incidence of hyperoxaluria ...
  4. Megalencephalic Leukoencephalopathy with Subcortical Cysts - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1535
    ... posted live 12 June 2003 (mvdk) Original submission References Literature Cited Abdel-Salam GM, Abdel-Hamid MS, ... 2581-94. [ PubMed : 15367490 ] van der Knaap MS, Barth PG, Vrensen GF, Valk J. Histopathology of an ...
  5. Tubulinopathies Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK350554
    ... posted live 7 July 2015 (nbb) Original submission References Literature Cited Amrom D, Tanyalcin I, Verhelst H, ... Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'Guyen S, ...
  6. Diagnosis - Non-Hodgkin's Lymphoma: Diagnosis and Management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK385274
    ... of change will vary according to current practice. References Akyurek N, Uner A, Benekli M, et al. ... 2253–2263. [ PubMed : 23335369 ] Horn H, Ziepert M, Barth TFE, et al. The prognostic impact of gene ...
  7. GRIN1-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542807
    ... posted live 28 February 2019 (kp) Original submission References Literature Cited Allen AS, Berkovic SF, Cossette P, ... Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray ...
  8. Detailed Methods - Screening for Breast Cancer - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343822
    ... in one or more of the above criteria. References 1. U.S. Preventive Services Task Force Procedure ... or previous breast cancer diagnosis has been excluded. References 1. National Cancer Institute. Breast Cancer Surveillance Consortium: ...
  9. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... for genetic risk factors and Table 2 for syndromes associated with ... Risk for Pancreatitis References / Selected OMIM Links 44% of children; 2% of ...
  10. Evidence Tables - Use of Telehealth During the COVID-19 Era - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590493
    ... Key Question 4 (n=39) (MS Word, 89K) References 1. Alexander GC, Tajanlangit M, Heyward J, et ... PMC free article : PMC8040322 ] [ PubMed : 33872824 ] [ CrossRef ] 153. Barth J, Canella C, Oehler M, et al. Digital ...
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