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Results 1 - 10 of 21 for robert syndrome 32
  1. 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. Citation on ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  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. KRAS gene 
    ... Mod Pathol. 2005 Feb;18 Suppl 2:S19-32. doi: 10.1038/modpathol.3800306. Citation on PubMed ... leading to developmental disorders. Hum Mutat. 2011 Jan;32(1):33-43. doi: 10.1002/humu.21377. ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  4. PRKAG2 gene 
    ... J Cardiovasc Electrophysiol. 2006 Jul;17(7):724-32. doi: 10.1111/j.1540-8167.2006.00485. ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  5. COL3A1 gene 
    ... Orphanet J Rare Dis. 2007 Jul 19;2:32. doi: 10.1186/1750-1172-2-32. Citation on PubMed or Free article on PubMed ... 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/col3a1 - Genetics
  6. MT-TL1 gene 
    ... extensive vascular involvement. Neuropathol Appl Neurobiol. 2006 Aug;32(4):359-73. doi: 10.1111/j.1365- ... S A. 2005 May 17;102(20):7127-32. doi: 10.1073/pnas.0500563102. Epub 2005 May ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  7. Chromosome 14 
    ... report and literature review. Pediatr Neurol. 2005 Feb;32(2):116-20. doi: 10.1016/j.pediatrneurol. ... Genet A. 2005 Oct 1;138A(2):127-32. doi: 10.1002/ajmg.a.30941. Citation on ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  8. Noonan syndrome 
    ... 12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Citation on PubMed Kratz ... 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
  9. Loeys-Dietz syndrome 
    ... Dietz syndrome. Heart. 2016 Apr;102(8):626-32. doi: 10.1136/heartjnl-2015-308535. Epub 2016 ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  10. TGFBR1 gene 
    ... inactivating. J Recept Signal Transduct Res. 2012 Jun;32(3):150-5. doi: 10.3109/10799893.2012. ... Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco ... HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
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