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86 results
  1. Joubert syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/joubert-syndrome
    ... JBTS22 JOUBERT SYNDROME 18; JBTS18 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 14; JBTS14 Scientific Articles on PubMed PubMed References Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome ...
  2. OFD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ofd1
    ... OMIM OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 Gene and Variant Databases NCBI Gene ClinVar References Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, ...
  3. Peters Plus Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1464
    ... reduce or abolish the function of the protein. References Literature Cited Boog G, Le Vaillant C, Joubert M. Prenatal sonographic findings in Peters-plus syndrome. Ultrasound Obstet Gynecol. 2005; 25 :602–6. [ PubMed : ...
  4. Nephronophthisis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Congenital Hepatic Fibrosis Overview ─ ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY Gunay-Aygun M, Gahl WA, Heller T. GeneReviews®. 1993 Review Joubert Syndrome [GeneReviews ® . 1993] Review Joubert Syndrome Parisi M, Glass ...
  5. KIF7 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/kif7
    ... Condition Joubert syndrome MedlinePlus Genetics provides information about Joubert syndrome More About This Health ... References Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, ...
  6. NPHP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/nphp1
    ... signs and symptoms of Senior-Løken syndrome or Joubert syndrome. Other Names for This Gene ... References Fliegauf M, Horvath J, von Schnakenburg C, Olbrich ...
  7. Hereditary Ataxia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1138
    ... or in Table 3 . Examples include the following: Joubert ... Distinguishing Clinical Features Other References / Selected OMIM Links More common and/or treatable ...
  8. L1 syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/l1-syndrome
    ... Catalog of Genes and Diseases from OMIM MASA SYNDROME CORPUS CALLOSUM, ... Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget ...
  9. CEP290 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/cep290
    ... Bardet-Biedl syndrome More About This Health Condition Joubert syndrome MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition Meckel syndrome MedlinePlus ...
  10. Congenital Mirror Movements - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279760
    ... mirror movements have also been occasionally reported in Joubert syndrome [ Ferland et al 2004 ], Moebius syndrome (OMIM 157900 ) [ ... Tassabehji et al 2008 , Mohamed et al 2013 ]. Joubert syndrome corresponds to a clinically and genetically heterogeneous group ...
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