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authFullName_s : Mathilde Pacault
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin , et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
Journal articles hal-01478814v1
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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet , Florence Robriquet , Klaus Schwarz , Carme Camps , Anne Couturier , et al.
Blood, 2018, 132 (5), pp.469-483. ⟨10.1182/blood-2018-03-838235⟩
Journal articles hal-01833917v1
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Cysteinyl leukotriene signaling through perinuclear CysLT(1) receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression.

Alison Eaton , Edit Nagy , Mathilde Pacault , J. Fauconnier , Magnus Bäck
Journal of Molecular Medicine, 2012, epub ahead of print. ⟨10.1007/s00109-012-0904-1⟩
Journal articles inserm-00698628v1
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Vers une généralisation du diagnostic prénatal non-invasif des maladies monogéniques ? État des lieux et perspectives

Camille Verebi , Victor Gravrand , Mathilde Pacault , Marie-Pierre Audrezet , Nathalie Couque , et al.
Gynécologie Obstétrique Fertilité & Sénologie, In press, ⟨10.1016/j.gofs.2023.07.005⟩
Journal articles hal-04185485v1