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Results 1 - 10 of 997 for Clinical symptoms
  1. Cowden syndrome 
    ... do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  2. X-linked juvenile retinoschisis 
    ... Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 ... X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. ...
    https://medlineplus.gov/.../x-linked-juvenile-retinoschisis - Genetics
  3. Sjögren-Larsson syndrome 
    ... Vahlquist A. Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. Acta ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  4. COL1A2 gene 
    ... Central Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  5. COL1A1 gene 
    ... PubMed Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  6. Catecholaminergic polymorphic ventricular tachycardia 
    ... inherited CPVT type 3 with severe and variable clinical symptoms. J Cardiovasc Electrophysiol. 2020 Jun;31(6):1527- ...
    https://medlineplus.gov/...ergic-polymorphic-ventricular-tachycardia - Genetics
  7. PTEN gene 
    ... do not meet the strict guidelines for a clinical diagnosis of Proteus syndrome. Instead, these individuals have a ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  8. Nager syndrome 
    ... and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug;132( ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  9. RS1 gene 
    ... Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye ...
    https://medlineplus.gov/genetics/gene/rs1 - Genetics
  10. Phosphoglycerate kinase deficiency 
    ... kinase deficiency in two brothers with McArdle-like clinical symptoms. Eur J Neurol. 2000 Jan;7(1):111- ...
    https://medlineplus.gov/.../phosphoglycerate-kinase-deficiency - Genetics
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