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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin DFrontiers in Endocrinology, 2021, 12, ⟨10.3389/fendo.2021.736240⟩
Journal articles
hal-03432717v1
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p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative studyEuropean Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
Journal articles
hal-00567037v1
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Involvement and alteration of the Sonic Hedgehog pathway is associated with decreased cholesterol level in trisomy 18 and SLO amniocytes.Molecular Genetics and Metabolism, 2014, 112 (2), pp.177-82. ⟨10.1016/j.ymgme.2014.03.009⟩
Journal articles
hal-01021803v1
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