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Results 1 - 10 of 40 for Joubert syndrome 8
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  1. Joubert syndrome 
    ... 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, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5- ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. OFD1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  3. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. KIF7 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  5. Polymicrogyria 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  7. Renal tubular dysgenesis 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
  8. National Institute of Environmental Health Sciences (National Institute of Environmental Health Sciences)  
    ... Branch Abee L. Boyles Ashlinn K. Quinn Bonnie Joubert Claudia L. Thompson Kimberly A. Gray Liam R. ... 22, 2023 September 13-14, 2022 June 7-8, 2022 February 15-16, 2022 November 29, 2021 ...
    https://www.niehs.nih.gov - Other Resources
  9. Essential Oils From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Environmental Health/Specifics ... Environmental Health ... National Institute of Environmental Health Sciences ... From the National Institutes of Health ... Essential oils ...
    https://www.niehs.nih.gov/health/topics/agents/essential-oils - External Health Links
  10. Asthma From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Asthma in Children/Start Here ... Asthma in Children ... Asthma/Start Here ... Asthma ... National Institute of Environmental Health Sciences ... From the National Institutes ...
    https://www.niehs.nih.gov/health/topics/conditions/asthma - External Health Links
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