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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomasNature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Article dans une revue
hal-02415844v1
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Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumGenetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue
hal-02000984v1
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyHuman Molecular Genetics, 2004, 13 (20), pp.2493 - 2503. ⟨10.1093/hmg/ddh265⟩
Article dans une revue
hal-01668977v1
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