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Results 1 - 10 of 13 for robert syndrome 14
  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. Epub ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  2. Wolff-Parkinson-White syndrome 
    ... Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344(24):1823-31. doi: 10.1056/NEJM200106143442403. ...
    https://medlineplus.gov/.../condition/wolff-parkinson-white-syndrome - Genetics
  3. 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
  4. Noonan syndrome 
    ... go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt that ... facio-cutaneous syndromes. Br J Cancer. 2015 Apr 14;112(8):1392-7. doi: 10.1038/bjc. ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  5. Cardiofaciocutaneous syndrome 
    ... 10.1002/ajmg.c.30295. Epub 2011 Apr 14. Citation on PubMed or Free article on PubMed ... Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342. Citation on ...
    https://medlineplus.gov/.../condition/cardiofaciocutaneous-syndrome - Genetics
  6. Hereditary hemorrhagic telangiectasia 
    ... Maison A. Hereditary hemorrhagic telangiectasia. CMAJ. 2009 Apr 14;180(8):833-5. doi: 10.1503/cmaj. ... Shapiro A. Hereditary haemorrhagic telangiectasia. Haemophilia. 2008 Nov;14(6):1269-80. doi: 10.1111/j.1365- ...
    https://medlineplus.gov/.../hereditary-hemorrhagic-telangiectasia - Genetics
  7. Restless legs syndrome 
    ... 10.1371/journal.pgen.1002171. Epub 2011 Jul 14. Erratum In: PLoS Genet. 2011 Aug;7(8). ...
    https://medlineplus.gov/genetics/condition/restless-legs-syndrome - Genetics
  8. Rhabdoid tumor predisposition syndrome 
    ... Feb;18(1):49-58. doi: 10.2350/14-07-1531-MISC.1. Epub 2014 Dec 10. ...
    https://medlineplus.gov/.../rhabdoid-tumor-predisposition-syndrome - Genetics
  9. FOXP2-related speech and language disorder 
    ... Genet A. 2006 Mar 1;140(5):509-14. doi: 10.1002/ajmg.a.31110. Citation on ...
    https://medlineplus.gov/...oxp2-related-speech-and-language-disorder - Genetics
  10. 16p11.2 deletion syndrome 
    ... and autism. N Engl J Med. 2008 Feb 14;358(7):667-75. doi: 10.1056/NEJMoa075974. ...
    https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome - Genetics
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