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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementJournal of Medical Genetics, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal articles
hal-01272929v1
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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling PathwayHuman Mutation, 2016, 37 (12), pp.1329-1339. ⟨10.1002/humu.23038⟩
Journal articles
hal-01439363v1
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineEBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Journal articles
hal-03790543v1
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