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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 familiesFirst International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers
inserm-00752961v1
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Finger creases lend a hand in Kabuki syndrome.European Journal of Medical Genetics, 2013, 56 (10), pp.556-560. ⟨10.1016/j.ejmg.2013.07.005⟩
Journal articles
hal-00916763v1
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Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databasesOrphanet Journal of Rare Diseases, 2016, 12 (1), pp.123. ⟨10.1186/s13023-017-0674-5⟩
Journal articles
inserm-01552312v1
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