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Results 1 - 10 of 148 for robert syndrome 1
  1. Roberts syndrome 
    ... ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. ... pericentric heterochromatin. EMBO J. 2012 Jan 4;31(1):71-82. doi: 10.1038/emboj.2011.381. Epub 2011 ... on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. Citation on PubMed Vega H, Waisfisz Q, ... EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. 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. ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
  4. SOS1 gene 
    ... No abstract available. English, Spanish. Citation on PubMed ... syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  5. Branchio-oculo-facial syndrome 
    ... Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783. ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  6. RAF1 gene 
    ... 7. doi: 10.1038/ng2078. Epub 2007 Jul 1. Citation on PubMed Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  7. Lissencephaly with cerebellar hypoplasia 
    ... Registry: Lissencephaly type 3 Genetic Testing Registry: Norman-Roberts syndrome ... lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg.b.30392. ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  8. COL1A2 gene 
    ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, ... Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  9. COL3A1 gene 
    ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, ... Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. ...
    https://medlineplus.gov/genetics/gene/col3a1 - Genetics
  10. COL1A1 gene 
    ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, ... Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
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