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105 results

  1. PNPO Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581452
    ... PMC free article : PMC5719849 ] [ PubMed : ... Van Bogaert P. West syndrome is an exceptional presentation of pyridoxine- and pyridoxal ...
  2. Pyridoxine-Dependent Epilepsy – ALDH7A1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1486
    ... 2009;65:550-6. [ PubMed : 19142996 ] Gibaud M, Barth M, Lefranc J, Mention K, Villeneuve N, Schiff M, Maurey H, Barthez MA, Caubel I, Chouchane M, Doummar D, Kossorotoff M, Lamblin MD, Roubertie A, Nabbout R, Van Bogaert P. West syndrome is an exceptional presentation of pyridoxine- and pyridoxal ...
  3. Cystic Fibrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... History 8 August 2024 (aa) Revision: White-Sutton syndrome added to Differential Diagnosis 9 March ... Guidelines / Consensus Statements Barben J, Castellani C, ...
  4. TRPM3-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589387
    ... posted live 2 November 2022 (dd) Original submission ... L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De ...
  5. X-Linked Myotubular Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1432
    ... Mol Genet. 2017; 26 :320–32. [ PubMed : ... A, Seemanova E. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and Step ...
  6. 16p11.2 Recurrent Deletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11167
    ... posted live 6 March 2009 (dtm) Original submission ... of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet. 2007; ...
  7. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat. 2011; 32 :59–69. [ PubMed : 21031596 ] Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR. Genotype-phenotype correlation ...
  8. Excluded References - Treatment for Acute Pain: An Evidence Map - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK549335
    ... Contents Search term < Prev Next > Appendix E Excluded References 1. Abdallah FW, Madjdpour C, Brull R. Is ... PubMed : 27550240 ] [ CrossRef ] 13. Anheyer D, Haller H, Barth J, et al. Mindfulness-Based Stress Reduction for ...
  9. References - Chronic Heart Failure in Adults - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536087
    ... Sep. Contents Search term < Prev Next > Appendix S References 1. Aaberge L, Rootwelt K, Blomhoff S, Saatvedt ... 2011; 22(11):1237–42 [ PubMed : 21615813 ] 131. Barth V. A nurse-managed discharge program for congestive ...
  10. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... cell and others).[ 32 ][ Level of evidence B4 ] References Smith MA, Altekruse SF, Adamson PC, et al.: ... Fungoides and Other Cutaneous T-Cell Lymphomas Treatment . References Percy CL, Smith MA, Linet M, et al.: ...
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