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Results 1 - 10 of 71 for robert syndrome 25
  1. Noonan syndrome 
    ... 10.1002/ajmg.a.37657. Epub 2016 Apr 25. Citation on PubMed Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013 Jan 26;381(9863):333-42. ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. PRKAG2 gene 
    ... Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R. Novel PRKAG2 mutation ... 2001 Dec 18;104(25):3030-3. doi: 10.1161/hc5001.102111. Citation ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  3. CAV3 gene 
    ... of CAV3 PubMed ... 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25. Citation on PubMed Alias L, Gallano P, Moreno ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  4. KRAS gene 
    ... KRAS gene mutations are found in 15 to 25 percent of all lung cancer cases but are ... frequent in white populations than in Asian populations; 25 to 50 percent of whites with lung cancer ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  5. TWNK gene 
    ... mutation with probable germline mosaicism. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01. ... Perrault syndrome with neurologic features. Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  6. Noonan syndrome with multiple lentigines 
    ... 10.1002/ajmg.a.36842. Epub 2014 Nov 25. Citation on PubMed Santoro C, Pacileo G, Limongelli ... associated SHP2 mutations. Biochemistry. 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  7. MT-TL1 gene 
    ... 1007/s00431-011-1662-8. Epub 2012 Jan 25. Citation on PubMed Chinnery PF, Howell N, Lightowlers ... G mitochondrial point mutation. Diabet Med. 2008 Apr;25(4):383-99. doi: 10.1111/j.1464- ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  8. 16p11.2 duplication 
    ... kb). The 600 kb region contains more than 25 genes, and little is known about the function ... doi: 10.1038/ng.474. Epub 2009 Oct 25. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  9. Pyle disease 
    ... disorder, although its prevalence is unknown. More than 25 cases have been described in the medical literature. ... the literature. S Afr Med J. 2016 May 25;106(6 Suppl 1):S110-3. doi: 10. ...
    https://medlineplus.gov/genetics/condition/pyle-disease - Genetics
  10. SMARCB1 gene 
    ... doi: 10.4161/epi.22299. Epub 2012 Sep 25. Citation on PubMed or Free article on PubMed ... remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub ...
    https://medlineplus.gov/genetics/gene/smarcb1 - Genetics
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