Literature DB >> 21448235

Clinical utility gene card for: Joubert syndrome.

Enza Maria Valente1, Francesco Brancati, Eugen Boltshauser, Bruno Dallapiccola.   

Abstract

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Year:  2011        PMID: 21448235      PMCID: PMC3179357          DOI: 10.1038/ejhg.2011.49

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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  4 in total

Review 1.  Joubert Syndrome and related disorders.

Authors:  Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente
Journal:  Orphanet J Rare Dis       Date:  2010-07-08       Impact factor: 4.123

Review 2.  Genotypes and phenotypes of Joubert syndrome and related disorders.

Authors:  Enza Maria Valente; Francesco Brancati; Bruno Dallapiccola
Journal:  Eur J Med Genet       Date:  2007-11-23       Impact factor: 2.708

3.  Joubert syndrome (and related disorders) (OMIM 213300).

Authors:  Melissa A Parisi; Dan Doherty; Phillip F Chance; Ian A Glass
Journal:  Eur J Hum Genet       Date:  2007-03-21       Impact factor: 4.246

Review 4.  The role of primary cilia in neuronal function.

Authors:  Jeong Ho Lee; Joseph G Gleeson
Journal:  Neurobiol Dis       Date:  2010-01-22       Impact factor: 5.996

  4 in total

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