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Results 1 - 10 of 92 for robert syndrome 30
  1. 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 Jul 1. Citation on PubMed Vega H, Waisfisz Q, Gordillo M, ... EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  2. 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 Jul 1. Citation on PubMed Vega H, Waisfisz Q, Gordillo M, ... EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  3. Sézary syndrome 
    ... RM, Castillo-Mosquera N, Nuttall EA, Paul A, Roberts CA, Solomonidis EG, ... Sezary syndrome. Blood. 2016 Jun 30;127(26):3387-97. doi: 10.1182/blood- ...
    https://medlineplus.gov/genetics/condition/sezary-syndrome - Genetics
  4. TGFBR2 gene 
    ... 81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Citation on PubMed ... Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  5. PTPN11 gene 
    ... Opin Genet Dev. 2007 Feb;17(1):23-30. doi: 10.1016/j.gde.2006.12.011. Epub 2007 Jan ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  6. SMARCA2 gene 
    ... Azad AK, Mirshams M, Chen Z, Xu W, Roberts H, Shepherd FA, Tsao MS, Reisman D. ... International Consortium. Phenotype and genotype in Nicolaides-Baraitser ...
    https://medlineplus.gov/genetics/gene/smarca2 - Genetics
  7. BRAF gene 
    ... M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [updated 2022 Jun 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ... and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  8. FTL gene 
    ... secretion. Arch Physiol Biochem. 2007 Feb;113(1):30-54. doi: 10.1080/13813450701318583. Citation on PubMed ... disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. doi: 10.1146/annurev.neuro.30. ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  9. Cleidocranial dysplasia 
    ... from the loss of these genes.In about 30 percent of individuals with cleidocranial dysplasia, no mutation ... doi: 10.1111/cge.12812. Epub 2016 Jun 30. Citation on PubMed Machol K, Mendoza-Londono R, ...
    https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia - Genetics
  10. PRKAG2 gene 
    ... on PubMed Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
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