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Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary DyskinesiaAmerican Journal of Human Genetics, 2009, 85 (6), pp.890-896. ⟨10.1016/j.ajhg.2009.11.008⟩
Journal articles
inserm-03894697v1
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.Human Mutation, 2009, 30 (11), pp.1574-82. ⟨10.1002/humu.21116⟩
Journal articles
inserm-00420359v1
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Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin ReceptorJournal of Clinical Endocrinology and Metabolism, 2009, 94 (11), pp.4334-4341. ⟨10.1210/jc.2009-1327⟩
Journal articles
hal-02081574v1
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