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Open Access Repository.
2020
132 publication(s):Note: when necessary, only the first 5 authors are displayed.Articles
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Porphyromonas spp. have an extensive host range in ill and healthy individuals and an unexpected environmental distribution: A systematic review and meta-analysis
- Luis Acuña-Amador, Frédérique Barloy-Hubler
- Anaerobe, 2020, 66, pp.102280.
- DOI : https://doi.org/10.1016/j.anaerobe.2020.102280
- Pubmed : 33011277
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Mutation of Arginine 264 on ERα (Estrogen Receptor Alpha) Selectively Abrogates the Rapid Signaling of Estradiol in the Endothelium Without Altering Fertility
- Marine Adlanmerini, Chanaëlle Febrissy, Rana Zahreddine, Emilie Vessières, Melissa Buscato et al.
- Arteriosclerosis, Thrombosis, and Vascular Biology, 2020, 40 (9), pp.2143-2158.
- DOI : https://doi.org/10.1161/ATVBAHA.120.314159
- Pubmed : 32640903
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
- Erfan Aref-Eshghi, Jennifer Kerkhof, Victor Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares et al.
- American Journal of Human Genetics, 2020, 106 (3), pp.356-370.
- DOI : https://doi.org/10.1016/j.ajhg.2020.01.019
- Pubmed : 32109418
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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
- Pauline Arnaud, Caroline Racine, Nadine Hanna, Julien Thevenon, Jean-Luc Alessandri et al.
- Human Genetics, 2020, 139 (4), pp.461-472.
- DOI : https://doi.org/10.1007/s00439-019-02102-9
- Pubmed : 31980905
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The post-transcriptional regulators Celf1 and Elavl1 control key transcription factors in lens development
- Sandeep Aryal, Justine Veit, Bailey A. T. Weatherbee, Archana Devi Siddam, F Hernández et al.
- Investigative Ophthalmology & Visual Science, 2020, 61 (7).
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The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development
- Sandeep Aryal, Justine Viet, Bailey a T Weatherbee, Archana D. Siddam, Francisco José García-Hernández et al.
- Human Genetics, 2020, 139 (12), pp.1541-1554.
- DOI : https://doi.org/10.1007/s00439-020-02195-7
- Pubmed : 32594240
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Electron Mass Predicted From Substructure Stability in Electrodynamical Model
- Stéphane Avner, Florence Boillot
- Frontiers in Physics, 2020, 8,
- DOI : https://doi.org/10.3389/fphy.2020.00213
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
- Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy Schneider et al.
- Human Mutation, 2020, 41 (1), pp.69-80.
- DOI : https://doi.org/10.1002/humu.23915
- Pubmed : 31513310
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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
- Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson et al.
- Epilepsia, 2020, 61 (11), pp.2461-2473.
- DOI : https://doi.org/10.1111/epi.16679
- Pubmed : 32954514
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Maternal and perinatal characteristics, congenital malformations and the risk of wilms tumor: the ESTELLE study
- Hélène Bauer, Paula Rios, Gudrun Schleiermacher, Dominique Valteau-Couanet, Anne-Isabelle Bertozzi et al.
- Cancer Causes and Control, 2020, 31 (5), pp.491-501.
- DOI : https://doi.org/10.1007/s10552-020-01288-y
- Pubmed : 32144681
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