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Results 1 - 9 of 9 for Joubert syndrome 6
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME ... Dede D, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, ... 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. Citation on ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. CEP290 gene 
    ... encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. 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
  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 ... CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut ... mutations. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167. ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  7. Oculomotor Apraxia (American Association for Pediatric Ophthalmology and Strabismus)  
    GLOSSARY, TERMS, ACRONYMS, PHRASES, DEFINITIONS, DICTIONARY ... Shows a single glossary entry ... Eye Movement Disorders/Specifics ... Eye Movement Disorders ... American ...
    https://www.aapos.org/glossary/oculomotor-apraxia - External Health Links
  8. L1 syndrome 
    ... Med Genet. 2000 May 1;92(1):40-6. doi: 10.1002/(sici)1096-8628(20000501)92:13.0.co;2-r. Citation on PubMed Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. 2006 Nov; ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  9. 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