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authFullName_s : Kevin Uguen

A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature

Loïc Couloigner , Marc Planes , Chandran Ka , Séverine Audebert-Bellanger , Sylvia Redon et al.
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
Journal articles hal-03930818v1
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Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Estelle Colin , Yannis Duffourd , Martin Chevarin , Emilie Tisserant , Simon Verdez et al.
Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920. ⟨10.3389/fcell.2023.1021920⟩
Journal articles hal-04067649v1