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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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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsClinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Journal articles
hal-01560204v1
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