Publications scientifiques
Les équipes de recherches de l'IGBMC publient régulièrement des articles qui font avancer les connaissances dans divers domaines de recherche. Vous trouverez sur cette page l'ensemble des publications dans lesquels les travaux de nos scientifiques sont cités.
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
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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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