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Results 1 - 10 of 96 for Brunner syndrome
  1. ... cannot pass X-linked traits to their sons. Brunner syndrome Deficiency of monoamine oxidase A X-linked monoamine oxidase deficiency Genetic Testing Registry: Brunner syndrome Monoamine oxidase A deficiency National Organization for Rare ...
  2. ... each cell is sufficient to cause the disorder. Brunner-Winter syndrome Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome Microcephaly-oculo- ...
  3. The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. ...
  4. ... VM, Gecz J, Field M. New insights into Brunner syndrome and potential for targeted therapy. Clin Genet. 2016 ...
  5. ... 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 ...
  6. ... Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split ...
  7. ... 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 ...
  8. ... 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. ...
  9. ... 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. ...
  10. ... or Free article on PubMed Central Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D. Autosomal Dominant Robinow Syndrome. 2015 Jan 8 [updated 2019 Oct 3]. In: ...
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