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Results 1 - 10 of 40 for robert syndrome 40
  1. Ehlers-Danlos syndrome 
    ... Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Citation ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  2. Lissencephaly with cerebellar hypoplasia 
    ... Lissencephaly 3 Lissencephaly syndrome, Norman-Roberts type Norman-Roberts syndrome Genetic Testing Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome Cobblestone lissencephaly National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  3. TWNK gene 
    ... individuals. More About This Health Condition At least 40 TWNK gene mutations have been identified in people ... Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  4. 6q24-related transient neonatal diabetes mellitus 
    ... genes in the 6q24 region can occur. About 40 percent of cases of 6q24-related transient neonatal ... and one inactive copy from the mother.Another 40 percent of cases of 6q24-related transient neonatal ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  5. Restless legs syndrome 
    ... be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having ... with restless legs syndrome. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. ...
    https://medlineplus.gov/genetics/condition/restless-legs-syndrome - Genetics
  6. SHANK3 gene 
    ... major neurological symptoms. J Med Genet. 2003 Aug;40(8):575-84. doi: 10.1136/jmg.40.8.575. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  7. PLAGL1 gene 
    ... overexpression of the PLAGL1 gene can occur. About 40 percent of cases of 6q24-related transient neonatal ... and one inactive copy from the mother.Another 40 percent of cases of 6q24-related transient neonatal ...
    https://medlineplus.gov/genetics/gene/plagl1 - Genetics
  8. Chromosome 6 
    ... genes in the 6q24 region can occur. About 40 percent of cases of 6q24-related transient neonatal ... and one inactive copy from the mother.Another 40 percent of cases of 6q24-related transient neonatal ...
    https://medlineplus.gov/genetics/chromosome/6 - Genetics
  9. Progressive external ophthalmoplegia 
    ... typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign ... Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  10. Short QT syndrome 
    ... Ann Noninvasive Electrocardiol. 2005 Oct;10(4):436-40. doi: 10.1111/j.1542-474X.2005.00064. ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
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