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Results 1 - 10 of 10 for Noonan syndrome 10
  1. ... Testing Registry: Noonan syndrome 1 Genetic Testing Registry: Noonan syndrome 10 Genetic Testing Registry: Noonan syndrome 2 Genetic Testing ... NOONAN SYNDROME 6; NS6 NOONAN SYNDROME 9; NS9 NOONAN SYNDROME 10; NS10 PubMed Chen PC, Yin J, Yu HW, ...
  2. ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Citation on ...
  3. ... 2014 Jul 1;53(25):4136-51. doi: 10.1021/bi5002695. Epub 2014 Jun 17. Citation on PubMed or Free article on PubMed Central
  4. ... hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5):425-6. doi: 10.1136/jmg.30.5.425. Citation on PubMed ...
  5. ... Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833-42. doi: 10.1136/jmg.2006.042796. Epub 2006 Jul 6. ...
  6. ... A, Margalit E. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol. 2007 Apr;22(4):462-4. doi: 10.1177/0883073807301933. Citation on PubMed Pober BR, Longoni M, Noonan KM. A review of Donnai-Barrow and facio- ...
  7. ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by variants in related genes. ...
  8. ... growths have been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, ... Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With ... doi: 10.21873/invivo.12431. Citation on PubMed Guettler S, ...
  9. ... or structure of particular chromosomes. Other conditions, including Noonan syndrome and Alagille syndrome, result from mutations in single ... DEFECTS, MULTIPLE TYPES, 6; CHTD6 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 ... disease: the glass half empty. Circ Res. 2013 Feb 15;112(4):707-20. doi: 10.1161/CIRCRESAHA.112.300853. Erratum In: Circ Res. ...
  10. ... 25 percent of people with another disorder called Noonan syndrome have factor XI deficiency. F11 Severe factor XI ... antecedent deficiency PTA deficiency Rosenthal factor deficiency Rosenthal syndrome Rosenthal's disease ... Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. Epub 2013 Aug 8. ...