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Deposit type : Notice

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy , Estelle Escudier , Laetitia Vincensini , Judy Freshour , Anne-Marie Bridoux , et al.
American Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩
Journal articles inserm-03894697v1

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Soumaya Mougou-Zerelli , Sophie Thomas , Emmanuelle Szenker , Sophie Audollent , Nadia Elkhartoufi , et al.
Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles inserm-00420359v1

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

Jacques Pantel , Marie Legendre , Sylvie Nivot , Séverine Morisset , Marie Vie-Luton , et al.
Journal of Clinical Endocrinology and Metabolism, 2009, 94 (11), pp.4334-4341. ⟨10.1210/jc.2009-1327⟩
Journal articles hal-02081574v1