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Results 1 - 7 of 7 for Joubert syndrome 8
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  1. ... JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME ... JBTS14 PubMed Brancati F, ... B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5- ...
  2. ... syndrome. Hum Genet. 2006 Sep;120(2):171-8. doi: 10.1007/s00439-006-0210-5. ... in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J ...
  3. ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
  4. ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition ACLS AGBK EQYK340 ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J ...
  5. ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Walsh CA. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of ... 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. ...
  6. ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
  7. ... R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. ...