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Mathilde Pacault
Mathilde Pacault
Genetics
Biology
Cystic fibrosis
Endocrinology
Internal medicine
3
Papers
20
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A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
2018
European Journal of Medical Genetics
Mathilde Pacault
Mathilde Nizon
Olivier Pichon
Marie Vincent
Cédric Le Caignec
Bertrand Isidor
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Citations (4)
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
2018
Clinical Chemistry and Laboratory Medicine
Aurelia Gruber
Mathilde Pacault
Laïla Allach El Khattabi
Nicolas Vaucouleur
Lucie Orhant
Thierry Bienvenu
Emmanuelle Girodon
Dominique Vidaud
Catherine Costa
Franck Letourneur
Olivia Anselem
Vassilis Tsatsaris
François Goffinet
Géraldine Viot
Michel Vidaud
Juliette Nectoux
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Citations (12)
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome
2018
European Journal of Human Genetics
Mathilde Pacault
Marie Vincent
Thomas Besnard
Caroline Kannengiesser
Claire Beneteau
S. Barbarot
Xénia Latypova
Khaldia Belabbas
Antonin Lamazière
Norbert Winer
M. Joubert
Stéphane Bézieau
Bertrand Isidor
Sandra Mercier
Mathilde Nizon
S. Leclerc-Mercier
S. Hadj Rabia
Fabienne Dufernez
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Citations (4)
1