Mathilde Pacault
3PUBLICATIONS
4CO-AUTHORS
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Publications (3)
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|Apr 24, 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.Mathilde Pacault, Camille Verebi, Magali Champion
|Apr 29, 2022
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.Mathilde Pacault, Camille Verebi, Maureen Lopez
|Aug 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.Mathilde Pacault, Marie Vincent, Thomas Besnard
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