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Results 1 - 10 of 39 for Joubert syndrome 22
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 25; JBTS25 JOUBERT SYNDROME 26; JBTS26 JOUBERT SYNDROME 22; JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. 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
  3. 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
  4. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22;54(4):909-13. doi: 10.1212/wnl. ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  5. Patient support and advocacy groups 
    ... Jain Foundation Jeffrey Modell Foundation Joshua Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  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. National Institute of Environmental Health Sciences (National Institute of Environmental Health Sciences)  
    ... 13, 2023 June 6-7, 2023 February 21-22, 2023 September 13-14, 2022 June 7-8, ... 21, 2013 Meeting September 11, 2012 Meeting May 22-23, 2012 Meeting February 15-16, 2012 Meeting ...
    https://www.niehs.nih.gov - Other Resources
  8. Renal tubular dysgenesis 
    ... condition. Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome ... JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
  9. Autism From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Autism Spectrum Disorder/Start Here ... Autism Spectrum Disorder ... National Institute of Environmental Health Sciences ... From the National Institutes of Health ... Autism, ...
    https://www.niehs.nih.gov/health/topics/conditions/autism - External Health Links
  10. Parkinson's Disease From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Parkinson's Disease/Statistics and Research ... Parkinson's Disease ... National Institute of Environmental Health Sciences ... The National Institute of Environmental ...
    https://www.niehs.nih.gov/health/topics/conditions/parkinson - External Health Links
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