Publications scientifiques
Les scientifiques de l'IGBMC publient régulièrement dans des revues dédiées à la recherche. Vous trouverez la liste de ces publications ci-dessous.
Publications
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2024
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
- Thomas Husson
- François Lecoquierre
- Gaël Nicolas
- Anne-Claire Richard
- Alexandra Afenjar
- Séverine Audebert-Bellanger
- Catherine Badens
- Frédéric Bilan
- Varoona Bizaoui
- Anne Boland
- Marie-Noëlle Bonnet-Dupeyron
- Elise Brischoux-Boucher
- Céline Bonnet
- Marie Bournez
- Odile Boute
- Perrine Brunelle
- Roseline Caumes
- Perrine Charles
- Nicolas Chassaing
- Nicolas Chatron
- ...
European Journal of Human Genetics ; Volume: 32 ; Page: 190-199
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Une cible thérapeutique contre la myopathie myotubulaire
- Marie Goret
- Jocelyn Laporte
Médecine/Sciences ; Volume: 40 ; Page: 133-136
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Skeletal and Cardiac Muscle Hydroxychloroquine Toxicity.
- Maude Bouchard Marmen
- Mickaël Ohana
- Jean-Jacques von Hunolstein
- Béatrice Lannes
- Alain Meyer
The Journal of rheumatology ; Volume: 51
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CoNIC Challenge: Pushing the frontiers of nuclear detection, segmentation, classification and counting
- Simon Graham
- Quoc Dang Vu
- Mostafa Jahanifar
- Martin Weigert
- Uwe Schmidt
- Wenhua Zhang
- Jun Zhang
- Sen Yang
- Jinxi Xiang
- Xiyue Wang
- Josef Lorenz Rumberger
- Elias Baumann
- Peter Hirsch
- Lihao Liu
- Chenyang Hong
- Angelica Aviles-Rivero
- Ayushi Jain
- Heeyoung Ahn
- Yiyu Hong
- Hussam Azzuni
- ...
Medical Image Analysis ; Volume: 92 ; Page: 103047
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Gene-specific RNA homeostasis revealed by perturbation of the NuA4/Tip60 acetyltransferase complex
- Faezeh Forouzanfar
- Damien Plassard
- Audrey Furst
- David F Moreno
- Karen A Oliveira
- Bernardo Reina-San-Martin
- László Tora
- Nacho Molina
- Manuel Mendoza
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Vaccinia Virus Defective Particles Lacking the F17 Protein Do Not Inhibit Protein Synthesis: F17, a Double-Edged Sword for Protein Synthesis?
- Georges Beaud
- Fleur Costa
- Bernard Klonjkowski
- François Piumi
- Muriel Coulpier
- Robert Drillien
- Baptiste Monsion
- Fauziah Mohd Jaafar
- Houssam Attoui
International Journal of Molecular Sciences ; Volume: 25 ; Page: 1382
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Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
- Laura Vanden Brande
- Stéphanie Bauché
- Laura Pérez-Guàrdia
- Damien Sternberg
- Andreea Seferian
- Edoardo Malfatti
- Roberto Silva-Rojas
- Clémence Labasse
- Frédéric Chevessier
- Pierre Carlier
- Bruno Eymard
- Norma Romero
- Jocelyn Laporte
- Laurent Servais
- Teresa Gidaro
- Johann Böhm
Neuropathology and Applied Neurobiology ; Volume: 50
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders
- Valentin Ruault
- Pauline Burger
- Johanna Gradels-Hauguel
- Nathalie Ruiz
- Rami Abou Jamra
- Alexandra Afenjar
- Yves Alembik
- Jean‐luc Alessandri
- Stéphanie Arpin
- Giulia Barcia
- Šárka Bendová
- Ange‐line Bruel
- Perrine Charles
- Nicolas Chatron
- Maya Chopra
- Solène Conrad
- Valérie Cormier Daire
- Auriane Cospain
- Christine Coubes
- Juliette Coursimault
- ...
Molecular Genetics & Genomic Medicine ; Volume: 12 ; Page: e2363
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Prognosis of impulse control disorders in Parkinson’s disease: a prospective controlled study
- Thomas Wirth
- Thibaut Goetsch
- Jean-Christophe Corvol
- Emmanuel Roze
- Louise-Laure Mariani
- Marie Vidailhet
- David Grabli
- Luc Mallet
- Antoine Pelissolo
- Olivier Rascol
- Christine Brefel-Courbon
- Fabienne Ory-Magne
- Christophe Arbus
- Samir Bekadar
- Pierre Krystkowiak
- Ana Marques
- Michel Llorca
- Paul Krack
- Anna Castrioto
- Valérie Fraix
- ...
Journal of Neurology
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Spontaneous rotations in epithelia as an interplay between cell polarity and boundaries
- Simon Lo Vecchio
- Olivier Pertz
- Marcela Szopos
- Laurent Navoret
- Daniel Riveline
Nature Physics
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