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Marie-Noelle Bonnet-Dupeyron

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Publications

2

Citations

50

H-Index

2

Active since

2006

Affiliations

Inserm(Current)

Pitié-Salpêtrière Hospital

Sorbonne Université

Marie-Noelle Bonnet-Dupeyron is an author at Inserm specializing in neuropathology, genetics, and medicine.

Top concepts

Publications per year

2006–2025

2

Publications

2

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1

Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier‐Barichard et al. · Neurogenetics · 2006 · 24 citations

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