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Results 1 - 10 of 80 for robert syndrome 17
  1. Roberts syndrome 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. ESCO2 gene 
    ... Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. PRKAG2 gene 
    ... on PubMed Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. Curr Opin Cardiol. 2002 May;17(3):229-34. doi: 10.1097/00001573-200205000- ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  4. TNXB gene 
    ... TNXB NCBI Gene ClinVar Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411- ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  5. PTPN11 gene 
    ... in cancer. Curr Opin Genet Dev. 2007 Feb;17(1):23-30. doi: ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. SOS1 gene 
    ... doi: 10.1074/jbc.M701609200. Epub 2007 May 17. Citation on PubMed ... PubMed Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  7. Warsaw breakage syndrome 
    ... Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome. Anemia. 2010;2010:565268. ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  8. Videos from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Video From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    ... 2018) Audio Descriptions The Human Placenta Project (07/17/2018) Audio Descriptions Rare Disease Research at NICHD: ...
    https://www.nichd.nih.gov/newsroom/digital-media/videos - Videos
  9. COL1A1 gene 
    ... a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the COL1A1 gene on ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  10. KRAS gene 
    ... 10.1136/jmg.2007.050450. Epub 2007 Aug 17. Citation on PubMed or Free article on PubMed ... 10.1128/MCB.00965-07. Epub 2007 Sep 17. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
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