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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Authors: Srour, Myriam; Hamdan, Fadi F.; McKnight, Dianalee; Davis, Erica; Mandel, Hanna; Schwartzentruber, Jeremy; Martin, Brissa; Patry, Lysanne; Nassif, Christina; Dionne-Laporte, Alexandre; Ospina, Luis H.; Lemyre, Emmanuelle; Massicotte, Christine; Laframboise, Rachel; Maranda, Bruno; Labuda, Damian; Décarie, Jean-Claude; Rypens, Françoise; Goldsher, Dorith; Fallet-Bianco, Catherine; Soucy, Jean-François; Laberge, Anne-Marie; Maftei, Catalina; Boycott, Kym; Brais, Bernard; Boucher, Renée-Myriam; Rouleau, Guy A.; Katsanis, Nicholas; Majewski, Jacek; Elpeleg, Orly; Kukolich, Mary K.; Shalev, Stavit; Michaud, Jacques L.
Source: The American Journal of Human Genetics ; volume 97, issue 5, page 744-753 ; ISSN 0002-9297
Publisher Information: Elsevier BV
Publication Year: 2015
Collection: ScienceDirect (Elsevier - Open Access Articles via Crossref)
Document Type: article in journal/newspaper
Language: English
DOI: 10.1016/j.ajhg.2015.09.009
Availability: http://dx.doi.org/10.1016/j.ajhg.2015.09.009; https://api.elsevier.com/content/article/PII:S0002929715003730?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S0002929715003730?httpAccept=text/plain
Rights: https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/open-access/userlicense/1.0/
Accession Number: edsbas.AF8541FE
Database: BASE