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Results 1 - 10 of 73 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. 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. Epub ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  3. PRKAG2 gene 
    ... 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/genetics/gene/prkag2 - Genetics
  4. 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
  5. 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
  6. Chromosome 14 
    ... divided into 23 pairs. Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs. Chromosome 14 spans more than 107 million DNA building blocks ( ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  7. FKBP14 gene 
    ... for making a protein called FKBP prolyl isomerase 14 (also known as FKBP22). This protein is found ... they need to function properly. FKBP prolyl isomerase 14 is thought to assist with protein folding, particularly ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  8. 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
  9. SCN9A gene 
    ... congenital inability to experience pain. Nature. 2006 Dec 14;444(7121):894-8. doi: 10.1038/nature05413. ... sets the gain on pain. Nature. 2006 Dec 14;444(7121):831-2. doi: 10.1038/444831a. ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  10. KRAS gene 
    ... in lung cancer. Clin Lung Cancer. 2013 May;14(3):205-14. doi: 10.1016/j.cllc.2012.09.007. ... Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
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