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490 results

  1. Acromegaly 
    https://medlineplus.gov/ency/article/000321.htm
    ... Body odor Blood in the stool Carpal tunnel syndrome Decreased muscle strength ( weakness ) Decreased peripheral vision Dental problems, gaps between the teeth Easy fatigue Enlarged tongue Excessive ...
  2. Pachyonychia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1280
    ... pathogenic variant in GJB6 , the gene encoding the gap junction beta-6 protein, can also mimic PC [ Hale et al 2015 ]. Alopecia does not typically occur in PC, whereas variable alopecia is a relatively common feature of Clouston syndrome. Nonsyndromic congenital nail disorder 10 (OMIM 614157 ) without ...
  3. 15q13.3 Recurrent Deletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK50780
    ... analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol. 2007; 8 :R114. [ PMC free article : ...
  4. Discussion - Treatment for Restless Legs Syndrome: Future Research Needs - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK153160
    ... in the draft CER, “Treatment for Restless Legs Syndrome.” 1 We conducted a deliberative process to refine and expand research gaps identified in the CER through conversations with stakeholders ...
  5. Bioterrorism Preparedness and Response: Use of Information Technologies and Decision Support Systems: Summary - AHRQ ... 
    https://www.ncbi.nlm.nih.gov/books/NBK11887
    ... or veterinary or zoonotic illness–a potentially significant gap in available ... syndromes, and febrile illnesses with either dermatologic or neurologic ...
  6. Treatment of Depression--Newer Pharmacotherapies: Summary - AHRQ Evidence Report Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11912
    ... were: bradycardia, bleeding, granulocytopenia, seizures, hyponatremia, hepatotoxicity, ... in Knowledge. Marked variability in methods of ascertainment ...
  7. GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes - GeneReviews® - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK1374
    ... nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient. J Child Neurol. 2010;25:759-63. [ PubMed : 20382840 ] Giepmans BN. Gap junctions and connexin-interacting proteins. Cardiovasc Res. 2004; ...
  8. Jervell and Lange-Nielsen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1405
    ... cis -regulatory elements that alter expression of the gap junction beta-2 protein [connexin ... is characterized by cardiac conduction abnormalities (ST-segment ...
  9. Liver Diseases | MedlinePlus 
    https://medlineplus.gov/liverdiseases.html
    ... stem... Article: Prognostic value of albumin-corrected anion gap in critically ill patients with... ... Alagille Syndrome (American Liver Foundation) Also in Spanish Biliary Atresia ( ...
  10. Identification and assessment of mental health problems - Mental Health Problems in People with Learning Disabilities: .... 
    https://www.ncbi.nlm.nih.gov/books/NBK401817
    ... restricted samples (for example, people with Down’s syndrome). In most cases for those measures recommended the psychometric properties were acceptable. However, there were notable gaps in the evidence including: very limited evidence for ...
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