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Results 1 - 10 of 39 for Joubert syndrome 9
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; ... Glass IA, Dempsey JC, Parisi M, Doherty D. Joubert Syndrome. 2003 Jul 9 [updated 2025 Mar 13]. In: Adam MP, Feldman ...
    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. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. NPHP1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/nphp1 - 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. 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 ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics
  8. Lung Diseases From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Lung Diseases/Statistics and Research ... Lung Diseases ... National Institute of Environmental Health Sciences ... From the National Institutes of Health ... Lung disease ...
    https://www.niehs.nih.gov/health/topics/conditions/lung-disease - External Health Links
  9. 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. ... May 24, 2016 February 23-24, 2016 September 9-10, 2015 June 2-3, 2015 February 19 ...
    https://www.niehs.nih.gov - Other Resources
  10. Exposure Science From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Environmental Health/Statistics and Research ... Environmental Health ... National Institute of Environmental Health Sciences ... From the National Institutes of Health
    https://www.niehs.nih.gov/health/topics/science/exposure - External Health Links
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