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Results 1 - 10 of 16 for robert syndrome 33
  1. SOS1 gene 
    ... of a child with SOS1 mutation in Noonan syndrome. Neurologia (Engl Ed). 2018 Mar;33(2):137-138. doi: 10.1016/j.nrl.2016.01.002. Epub 2016 Mar 8. No abstract available. English, Spanish. Citation on PubMed Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo ...
    https://medlineplus.gov/genetics/gene/sos1 - Genetics
  2. Fraser syndrome 
    ... J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623. Citation ... Group; Hennekam RC, Scambler PJ. Molecular study of 33 families with Fraser syndrome new data and mutation ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  3. KRAS gene 
    ... developmental disorders. Hum Mutat. 2011 Jan;32(1):33-43. doi: 10.1002/humu.21377. Epub 2010 ... 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
  4. 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)  
    ... síndrome de muerte súbita del bebé (Completo/1:33) (06/19/2020) Audiodescripciones NICHD: On the Road ...
    https://www.nichd.nih.gov/newsroom/digital-media/videos - Videos
  5. TGFBR2 gene 
    ... UMD-TGFBR2. Hum Mutat. 2008 Jan;29(1):33-8. doi: 10.1002/humu.20602. Citation on ... 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/tgfbr2 - Genetics
  6. COL5A1 gene 
    ... to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. ...
    https://medlineplus.gov/genetics/gene/col5a1 - Genetics
  7. COL5A2 gene 
    ... to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  8. SMARCA2 gene 
    ... cancers. Cancer Med. 2014 Apr;3(2):426-33. doi: 10.1002/cam4.201. Epub 2014 Feb ...
    https://medlineplus.gov/genetics/gene/smarca2 - Genetics
  9. Chromosome 14 
    ... Amst). 2006 Sep 8;5(9-10):1225-33. doi: 10.1016/j.dnarep.2006.05.012. ... Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, ... phenotype consists of postnatal microcephaly, severe mental retardation, ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  10. RRM2B gene 
    ... Sci U S A. 2012 Aug 14;109(33):13302-7. doi: 10.1073/pnas.1211289109. Epub ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
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