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Asb2 alpha-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development
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Isabelle Lamsoul
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Armelle Melet
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Sandrine Uttenweiler-Joseph
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Renaud Poincloux
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Journal articles
hal-02544517v1
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CFD simulations of large-scale reorganizations in PWR rod bundle flows
F. Muller
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A. Burbeau
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B.J. Gréa
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P. Sagaut
TI2018 - 5th Internationnal conference on Turbulence and Interactions, Jun 2018, Les Trois Ilets, Martinique
Conference papers
cea-02338611v1
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Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
Sami Bizzari
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Lara El-Bazzal
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Pratibha Nair
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Antoine Younan
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hal-02550686v1
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Identifying communities from multiplex biological networks by randomized optimization of modularity
Gilles Didier
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Alberto Valdeolivas
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Anaïs Baudot
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hal-01881798v1
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Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
Forés-Martos Jaume
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Catalá-López Ferrán
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Ibáñez Kristina
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Tejero Héctor
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hal-02097145v1
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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Nadine Jalkh
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Sandra Corbani
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Elias Farah
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Journal articles
hal-02048914v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Aline Brechet
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Rebecca Buchert
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Jochen Schwenk
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Sami Boudkkazi
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Gerd Zolles
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hal-02044718v1
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Neurographie IRM quantitative de patients atteints d’une neuropathie de Charcot-Marie-Tooth de type 1A
Etienne Fortanier
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Augustin C. Ogier
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Marie-Noëlle Lefebvre
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Émilien Delmont
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David Bendahan
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et al.
17es Journées de la Société Française de Myologie (JSFM), Nov 2019, Marseille, France
Conference poster
hal-02438588v1
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Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect
Amélie Pinard
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Nathalie Eudes
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Julia Mitchell
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Fanny Bajolle
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Maude Grelet
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et al.
Journal articles
hal-01991345v1
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Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices
Maéva Langouët Langouët
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Dennis Mircsof
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Marlène Rio
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Jeanne Amiel
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Steven Brown
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et al.
Journal articles
hal-02142248v1
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Evaluation of wall shear stress effect on aortic valve endothelial cell: step up of a “flow chamber” model for mechanobiological studies
Emilie Faure
,
Eric Bertrand
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Stéphane Zaffran
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Valerie Deplano
Printemps de la Cardiologie - Recherche Fondamentale et Clinique, Apr 2019, Lille, France
Conference papers
hal-02399273v1
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High Serum Vitamin B12 Levels Associated with C‐Reactive Protein in Older Patients with Cancer
Anne‐laure Couderc
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Eddy Puchades
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Patrick Villani
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Robin Arcani
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Laure Farnault
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Journal articles
hal-03157027v1
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Treatabolome database: towards enhancing Rare Diseases’ treatment visibility
C. Hernandez-Ferrer
,
A. Corvó
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L. Matalonga
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R. Thompson
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L. Carmody
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et al.
Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany
Conference papers
hal-03988747v1
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Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’
Antonio Atalaia
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Rabah Ben Yaou
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Karim Wahbi
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Annachiara de Sandre-Giovannoli
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Corinne Vigouroux
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hal-03171665v1
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Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma
Jacques W.M. Lenders
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Michiel Kerstens
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Laurence Amar
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Aleksander Prejbisz
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Mercedes Robledo
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hal-02863915v1
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Short-Pulse Lasers: A Versatile Tool in Creating Novel Nano-/Micro-Structures and Compositional Analysis for Healthcare and Wellbeing Challenges
Ahmed Al-Kattan
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David Grojo
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Christoph Drouet
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Alexandros Mouskeftaras
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Philippe Delaporte
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hal-03167757v1
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Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
Lucie Coppin
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Margaux Dufosse
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Pauline Romanet
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Sophie Giraud
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Marie-Odile North
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Journal articles
hal-03216133v1
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Pan Aurora Kinase Inhibitor: A Promising Targeted-Therapy in Dedifferentiated Liposarcomas With Differential Efficiency Depending on Sarcoma Molecular Profile
Jean Camille Mattei
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Corinne Bouvier
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Doriane Barets
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Nicolas Macagno
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Mathieu Chocry
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hal-03101390v1
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An AI-Powered Blood Test to Detect Cancer Using NanoDSF
Philipp A Tsvetkov
,
Rémi Eyraud
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Stéphane Ayache
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Anton A Bougaev
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Soazig Malesinski
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Journal articles
hal-03169412v1
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Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study
Annamaria Colao
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Marcello Bronstein
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Thierry Brue
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Laura de Marinis
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Maria Fleseriu
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hal-03222577v1
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Evaluation of an individualized education program in pituitary diseases: a pilot study
Frédérique Albarel
,
I Pellegrini
,
H Rahabi
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C Baccou
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L Gonin
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et al.
Journal articles
hal-03223111v1
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Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments
Karine Nguyen
,
Jérôme Robin-Ducellier
Journal articles
hal-03080379v1
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Germline AGO2 mutations impair RNA interference and human neurological development
Davor Lessel
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Daniela Zeitler
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Margot Reijnders
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Andriy Kazantsev
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Fatemeh Hassani Nia
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Journal articles
hal-03222237v1
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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity
Pascale Richard
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Flavie Ader
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Maguelonne Roux
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Erwan Donal
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Jean-Christophe Eicher
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Journal articles
hal-02055778v1
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Estimation de l'âge médicolégal grâce à l'étude de la méthylation de l'ADN : revue de la littérature
Juliette Bacquet
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Frédérique Magdinier
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G. Léonetti
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C. Bartoli
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J. Chiaroni
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Journal articles
hal-02407527v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche
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Camille Dion
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Natacha Broucqsault
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Camille Laberthonnière
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Marie-Cécile Gaillard
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Journal articles
hal-02406985v1
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MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies
Diane Frankel
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Valerie Delecourt
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Sophie Perrin
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Karim Harhouri
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Annachiara de Sandre-Giovannoli
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hal-01925609v1
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Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods
Pascal Amedro
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Arthur Gavotto
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Antoine Legendre
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Kathleen Lavastre
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Charlene Bredy
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hal-02478898v1
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2018 Consensus of the French Society of Endocrinology: endocrine toxicities of cancer immunotherapies
Frederic Castinetti
,
Francoise Borson-Chazot
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Frederique Aibarel
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Francoise Archambeaud
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Jerome Bertherat
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et al.
Correspondances en Métabolismes, Hormones, Diabètes et Nutrition, 2019, 23 (2), pp.31-36
Journal articles
hal-02478900v1
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Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis
Océane Landon-Cardinal
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Diane Friedman
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Marguerite Guiguet
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Pascal Laforet
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Nicholas Heming
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et al.
Journal articles
hal-02377514v1
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