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Results 1 - 10 of 50 for Brunner syndrome
  1. ... VM, Gecz J, Field M. New insights into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
  2. ... have been found to cause the Maat-Kievit-Brunner type of Ohdo syndrome, which is a rare condition characterized by intellectual ... The mutations that result in the Maat-Kievit-Brunner type of Ohdo syndrome change the structure of the MED12 gene, impairing ...
  3. ... Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split ...
  4. ... AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34. ...
  5. ... van Bon B, Seaward G; FORGE Canada Consortium; Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clin Genet. ...
  6. ... Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication ...
  7. ... BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet ...
  8. ... Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Ludecke HJ, Wieczorek D. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - ...
  9. ... Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J ...
  10. ... RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008 Sep;29(9):1125-32. ...
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