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135 results

  1. X-Linked Myotubular Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1432
    ... e., cores) Central nuclei usually not ↑ Congenital myasthenic syndromes >25 genes AD AR Can present w/similar symptoms in early childhood, w/facial & extremity weakness & involvement ...
  2. ARSACS - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1255
    ... ataxic disorders. 3. Klebe et al [2006] Malabsorption syndromes of various etiologies may also cause ataxia late in the disease course. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  3. VLDLR Cerebellar Hypoplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1874
    ... the pathogenic variants in a family are known. Diagnosis VLDLR cerebellar hypoplasia ( VLDLR -CH) is a subgroup of dysequilibrium syndrome (DES), a spectrum of genetically heterogeneous conditions that ...
  4. Alexander Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1172
    ... H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol. 2001; ...
  5. Multiple Endocrine Neoplasia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1257
    ... article : PMC2614907 ] [ PubMed : 18794260 ] Ilias I, Pacak K. Diagnosis, localization and treatment of pheochromocytoma in MEN 2 syndrome. Endocr Regul. 2009;43:89-93. [ PubMed : 19856714 ] ...
  6. Excluded Studies - Noninvasive Nonpharmacological Treatment for Chronic Pain: A Systematic Review Update - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK556230
    ... The effect of relaxation therapy on autonomic functioning, symptoms and daily functioning, in patients with chronic fatigue syndrome or fibromyalgia: a systematic review. Clinical Rehabilitation. 2015 ...
  7. List of Excluded Studies - Pharmacologic and Nonpharmacologic Treatments for Posttraumatic Stress Disorder: 2024 Update ... 
    https://www.ncbi.nlm.nih.gov/books/NBK612893
    ... CN-00593233. Exclusion: 9. 1320. Von Känel R, Barth J, Princip M, et al. Early psychological counseling for the prevention of posttraumatic stress induced by Acute Coronary Syndrome: the MI-SPRINT randomized controlled trial. Psychother Psychosom. ...
  8. TSEN54 Pontocerebellar Hypoplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK9673
    ... 373–86. [ PMC free article : PMC2039791 ] [ PubMed : 17641900 ] Barth PG, Blennow G, Lenard HG, Begeer JH, van der Kley JM, Hanefeld F, Peters ACB, Valk J. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal ...
  9. List of Excluded Studies - Pharmacologic and Nonpharmacologic Treatments for Posttraumatic Stress Disorder: An Update ... 
    https://www.ncbi.nlm.nih.gov/books/NBK564739
    ... 3. [ PubMed : 28776476 ] [ CrossRef ] 881. Von Känel R, Barth J, Princip M, et al. Early psychological counseling for the prevention of posttraumatic stress induced by Acute Coronary Syndrome: the MI-SPRINT randomized controlled trial. Psychother Psychosom. ...
  10. SYNGAP1-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK537721
    ... of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. Eur J Hum Genet. 2011; 19 :239–42. [ ...
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