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Results 1 - 7 of 7 for "Martinez-Frias" syndrome
  1. ... G syndrome Opitz G syndrome Opitz syndrome Opitz-Frias syndrome Genetic Testing Registry: Autosomal dominant Opitz G/BBB ...
  2. ... Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. ...
  3. ... Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, ... Citation on PubMed
  4. ... mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007 ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
  5. ... mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet. 2007 ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
  6. ... in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. ... Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship ...
  7. ... nlm.nih.gov/books/NBK1366/ Citation on PubMed Martinez-Frias ML, de ... and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000 Feb;21( ...