Results 1 - 10 of 46 for burn
  1. Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, ...
  2. Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, ...
  3. ... gene mutations have been identified in people with Burn-McKeown syndrome, a disorder that is present from ... heart abnormalities, and short stature. Most people with Burn-McKeown syndrome have a different genetic change in ...
  4. ... NORD) NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 PubMed Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 Sep;13(3):176-81. Citation on PubMed Burn J. Neuroferritinopathy: iron in the brain. Mol Cytogenet. ...
  5. ... RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss- ... Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 ...
  6. ... FTL PubMed FERRITIN LIGHT CHAIN NCBI Gene ClinVar Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 ... Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Neuroferritinopathy: a window on the role of ...
  7. ... impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs. BCHE When due to ... Review. Citation on PubMed Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping ...
  8. ... Rare Disorders (NORD) ClinicalTrials.gov KAWASAKI DISEASE PubMed Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 ... 0b013e3181f43a4e. Citation on PubMed Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura ...
  9. ... RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss- ... H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks ...
  10. ... 5-TRISPHOSPHATE 3-KINASE C NCBI Gene ClinVar Burns JC. Kawasaki Disease update. Indian J Pediatr. 2009 ... 0b013e3181f43a4e. Citation on PubMed Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura ...
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