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Structure: Internal structure identifier : 1088523

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.
Blood, 2022, 140 (Supplement 1), pp.8157-8158. ⟨10.1182/blood-2022-163123⟩
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
mSystems, 2022, 7 (4), ⟨10.1128/msystems.00432-22⟩
Journal articles hal-03781944v1

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.
Annales d'Endocrinologie, 2022, ⟨10.1016/j.ando.2022.02.001⟩
Journal articles hal-03604251v1

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.
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
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.
Biomedicine and Pharmacotherapy, 2022, 150, pp.113094. ⟨10.1016/j.biopha.2022.113094⟩
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.
New England Journal of Medicine, 2011, 365 (16), pp.1471-1481. ⟨10.1056/NEJMoa1013911⟩
Journal articles hal-02868136v1

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.
Molecular Psychiatry, 2016, 21 (6), pp.831-836. ⟨10.1038/mp.2015.121⟩
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 of Biomedical Semantics, 2023, 14 (1), pp.7. ⟨10.1186/s13326-023-00289-5⟩
Journal articles hal-04148181v1

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.
International Journal of Molecular Sciences, 2023, 24 (10), pp.8729. ⟨10.3390/ijms24108729⟩
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.
Molecules, 2019, 24 (2), pp.229. ⟨10.3390/molecules24020229⟩
Journal articles cea-02571967v1

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.
Human Mutation, 2022, 43 (9), pp.1333-1342. ⟨10.1002/humu.24436⟩
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.
JOBIM, Jul 2022, Rennes, France. ⟨10.5281/zenodo.6769072⟩
Conference poster hal-03702557v1