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Results 1 - 10 of 106 for robert syndrome 7
  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. Epub 2009 ...
    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 ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. Short QT syndrome 
    ... 038. Citation on PubMed Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12. doi: 10.1016/j.jacc.2010. ...
    https://medlineplus.gov/genetics/condition/short-qt-syndrome - Genetics
  4. Noonan syndrome 
    ... Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cave H, Gelb BD, Neel BG, Tartaglia M. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  5. Blood Diseases and Down Syndrome (National Down Syndrome Society)  
    Down Syndrome/Related Issues ... Down Syndrome ... National Down Syndrome Society ... Blood Diseases & Down Syndrome
    https://ndss.org/resources/blood-diseases-syndrome - External Health Links
  6. Branchio-oculo-facial syndrome 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008.03.005. ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  7. TFAP2A gene 
    ... on PubMed Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008.03.005. ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  8. RAF1 gene 
    ... syndrome. Nat Genet. 2007 Aug;39(8):1013-7. doi: 10.1038/ng2078. Epub 2007 Jul 1. ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  9. SCN9A gene 
    ... VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 9; SCN9A DRAVET SYNDROME; DRVT GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 NCBI Gene ClinVar Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  10. SMARCA4 gene 
    ... of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Citation on PubMed Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 2011 Jun 9;11(7):481-92. doi: 10.1038/nrc3068. Citation on ...
    https://medlineplus.gov/genetics/gene/smarca4 - Genetics
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