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Results 1 - 4 of 4 for Joubert syndrome 7
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  1. ... JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 JOUBERT SYNDROME 20; JBTS20 JOUBERT SYNDROME ...
  2. ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann ... Nov;58(5):680-7. doi: 10.1002/ana.20616. Citation on PubMed ...
  3. ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
  4. ... D, Mora-Lopez F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7. Citation on PubMed Weller S, Gartner J. Genetic ...