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- Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, ...
- 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, ...
- ... 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 ...
- ... NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 PubMed Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006 ... j.spen.2006.08.006. Citation on PubMed Burn J. Neuroferritinopathy: iron in the brain. Mol Cytogenet. ...
- ... 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 ...
- ... PubMed FERRITIN LIGHT CHAIN; FTL 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 ...
- ... infections; kidney, liver, or heart disease; malnutrition; major burns; cancer; and certain prescription medications. BCHE When pseudocholinesterase ... NBK541032/ Citation on PubMed Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping ...
- ... Mateo C, Libutti SK, Oliver B, Chandrasekharappa SC, Burns AL, Collins FS, Spiegel AM, Marx SJ. Menin ... 2005-870139. Citation on PubMed Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman ...
- ... 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 ...
- ... 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 ...