Joubert syndrome: genotyping a Northern European patient cohort-Reference-Cited by-同舟云学术

Joubert syndrome: genotyping a Northern European patient cohort

Published:2015-04-29 Issue:2 Volume:24 Page:214-220
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kroes Hester Y,Monroe Glen R,van der Zwaag Bert,Duran Karen J,de Kovel Carolien G^ORCID,van Roosmalen Mark J,Harakalova Magdalena,Nijman Ies J,Kloosterman Wigard P,Giles Rachel H^ORCID,Knoers Nine VAM,van Haaften Gijs

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201584.pdf

Reference36 articles.

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3. Doherty D : Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 2009; 16: 143–154.

4. Valente EM, Brancati F, Dallapiccola B : Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 2008; 51: 1–23.

5. Gherman A, Davis EE, Katsanis N : The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006; 38: 961–962.

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