4.2 Article

Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Review Clinical Neurology

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

Dan Doherty

SEMINARS IN PEDIATRIC NEUROLOGY (2009)

Review Genetics & Heredity

Genotypes and phenotypes of Joubert syndrome and related disorders

Enza Maria Valente et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)