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In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis
Valéna Karaghiannis
,
Darko Maric
,
Céline Garrec
,
Nada Maaziz
,
Alexandre Buffet
,
et al.
Journal articles
hal-04031832v1
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MAGNETO: An Automated Workflow for Genome-Resolved Metagenomics
Benjamin Churcheward
,
Maxime Millet
,
Audrey Bihouée
,
Guillaume Fertin
,
Samuel Chaffron
Journal articles
hal-03781944v1
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Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome
Antoine Tabarin
,
Guillaume Assie
,
Pascal Barat
,
Fideline Bonnet
,
Jean Francois Bonneville
,
et al.
Journal articles
hal-03604251v1
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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
Alban Ziegler
,
Katharina Steindl
,
Ashleigh Hanner
,
Rajesh Kumar Kar
,
Clément Prouteau
,
et al.
Journal articles
hal-03861090v1
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MT9, a natural peptide from black mamba venom antagonizes the muscarinic type 2 receptor and reverses the M2R-agonist-induced relaxation in rat and human arteries
Justyna Ciolek
,
Claude Zoukimian
,
Justine Dhot
,
Mélanie Burban
,
Mathilde Triquigneaux
,
et al.
Journal articles
hal-03693311v1
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Earlier versus later start of antiretroviral therapy in HIV-infected adults with tuberculosis
François-Xavier Blanc
,
Thim Sok
,
Didier Laureillard
,
Laurence Borand
,
Claire Rekacewicz
,
et al.
Journal articles
hal-02868136v1
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SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease
Gaël Nicolas
,
C Charbonnier
,
David Wallon
,
O Quenez
,
C Bellenguez
,
et al.
Journal articles
hal-03630222v1
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FAIR-Checker: supporting digital resource findability and reuse with Knowledge Graphs and Semantic Web standards
Alban Gaignard
,
Thomas Rosnet
,
Frédéric de Lamotte
,
Vincent Lefort
,
Marie-Dominique Devignes
Journal articles
hal-04148181v1
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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
Adella Karam
,
Clarisse Delvallée
,
Alejandro Estrada-Cuzcano
,
Véronique Geoffroy
,
Jean-Baptiste Lamouche
,
et al.
Journal articles
hal-04188206v1
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Aptamer efficacies for in vitro and in vivo modulation of $\alpha$C-conotoxin PrXA pharmacology
Germain Sotoing Taïwe
,
Jérôme Montnach
,
Sébastien Nicolas
,
Stephan de Waard
,
Emmanuelle Fiore
,
et al.
Journal articles
cea-02571967v1
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Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe
Isabel Alves
,
Joanna Giemza
,
Michael Blum
,
Carolina Bernhardsson
,
Stéphanie Chatel
,
et al.
Special issue
hal-04045175v1
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Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form associated genes provides new insights for molecular diagnosis and clinical management.
Adeline Goudal
,
Matilde Karakachoff
,
Pierre Lindenbaum
,
Estelle Baron
,
Stéphanie Bonnaud
,
et al.
Journal articles
hal-03722211v1
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EDAM, the life-science ontology for data analysis and management
Lucie Lamothe
,
Alban Gaignard
,
Mads Kierkegaard
,
Hager Eldakroury
,
Melissa Black
,
et al.
Conference poster
hal-03702557v1
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