Kolexia
Jouk Pierre-Simon
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
95 Activités
3 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Arthrogrypose Retard mental lié à l'X Infertilité masculine Malformations crâniofaciales Délétion de segment de chromosome Cardiopathies congénitales Épilepsie Malformations multiples

Industries

Novo Nordisk
1 collaboration(s)
Dernière en 2016
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Dernières activités

Soft-Matter Physics Provides New Insights on Myocardial Architecture: Automatic and Quantitative Identification of Topological Defects in the Trabecular Myocardium.
Journal of cardiovascular development and disease   29 décembre 2023
The Nematic Chiral Liquid Crystal Structure of the Cardiac Myoarchitecture: Disclinations and Topological Singularities.
Journal of cardiovascular development and disease   29 octobre 2022
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia   18 février 2022
The Myosin Myocardial Mesh Interpreted as a Biological Analogous of Nematic Chiral Liquid Crystals.
Journal of cardiovascular development and disease   11 décembre 2021
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
Journal of medical genetics   07 décembre 2021
Arthrogryposes multiples congénitales
HAS Publications   20 octobre 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal of medical genetics   05 avril 2021
syndrome: clinical and molecular characterization of a cohort of 26 patients and description of novel non-coding variants of RBM8A
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Human mutation   10 novembre 2020
Polarized Light Imaging of the Myoarchitecture in Tetralogy of Fallot in the Perinatal Period.
Frontiers in pediatrics   22 septembre 2020