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60 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. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... OFD1 Allelic Disorders View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , Field et al [2012] , ...
  3. 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, ...
  4. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... posted live 27 January 2003 (mp) Original submission References Published Guidelines / Consensus Statements Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Available online . 2007. ...
  5. 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 : ...
  6. Kidney Cyst | Polycystic Kidney Disease | MedlinePlus 
    https://medlineplus.gov/kidneycysts.html
    ... Kidney Diseases (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine) Article: Sleep and breathing in children with Joubert syndrome and a review... Article: Radiomics for differential diagnosis ...
  7. Sleep Apnea | MedlinePlus 
    https://medlineplus.gov/sleepapnea.html
    ... Apnea Syndromes (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine) Article: Sleep and breathing in children with Joubert syndrome and a review... Article: The impact of brain- ...
  8. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... Congenital Hepatic Fibrosis Overview ─ RETIRED 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 ...
  9. 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, ...
  10. 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 ...
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