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Results 1 - 10 of 10 for robert syndrome 39
  1. SOS1 gene 
    ... No abstract available. English, Spanish. Citation on PubMed ... Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  2. RAF1 gene 
    ... RAF1 cause Noonan syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  3. PLAGL1 gene 
    ... disorder of imprinting. J Med Genet. 2002 Dec;39(12):872-5. doi: 10.1136/jmg.39.12.872. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/plagl1 - Genetics
  4. COL5A1 gene 
    ... Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey ... of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  5. COL5A2 gene 
    ... Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 ... Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey ... of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  6. SCN9A gene 
    ... neuropathy. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  7. TWNK gene 
    ... activity. J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: 10.1074/jbc.M110.151795. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. BSCL2 gene 
    ... Biol Cell. 2015 Feb 15;26(4):726-39. doi: 10.1091/mbc.E14-08-1303. Epub ... F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, ... hand involvement and Silver syndrome. J Neurol Sci. 2007 Dec 15;263(1- ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  9. SHANK3 gene 
    ... with autism spectrum disorders. Nat Genet. 2007 Jan;39(1):25-7. doi: 10.1038/ng1933. Epub ... Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. ... deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 ...
    https://medlineplus.gov/genetics/gene/shank3 - Genetics
  10. RRM2B gene 
    ... severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics