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Asb2 alpha-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling During Heart Development

Arnaud Metais , Isabelle Lamsoul , Armelle Melet , Sandrine Uttenweiler-Joseph , Renaud Poincloux , et al.
Circulation Research, 2018, 122 (6), pp.E34+. ⟨10.1161/CIRCRESAHA.117.312015⟩
Journal articles hal-02544517v1
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CFD simulations of large-scale reorganizations in PWR rod bundle flows

F. Muller , A. Burbeau , B.J. Gréa , 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 , Lara El-Bazzal , Pratibha Nair , Antoine Younan , Samantha Stora , et al.
European Journal of Medical Genetics, 2020, 63 (5), pp.103869. ⟨10.1016/j.ejmg.2020.103869⟩
Journal articles hal-02550686v1
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Identifying communities from multiplex biological networks by randomized optimization of modularity

Gilles Didier , Alberto Valdeolivas , Anaïs Baudot
Journal articles hal-01881798v1

Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer

Forés-Martos Jaume , Catalá-López Ferrán , Sánchez-Valle Jon , Ibáñez Kristina , Tejero Héctor , et al.
Molecular Autism, 2019, 10 (1), ⟨10.1186/s13229-019-0262-8⟩
Journal articles 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 , Sandra Corbani , Zahraa Haidar , Nadine Hamdan , Elias Farah , et al.
BMC Medical Genomics, 2019, 12 (1), ⟨10.1186/s12920-019-0474-y⟩
Journal articles hal-02048914v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Brechet , Rebecca Buchert , Jochen Schwenk , Sami Boudkkazi , Gerd Zolles , et al.
Nature Communications, 2017, 8, pp.15910. ⟨10.1038/ncomms15910⟩
Journal articles hal-02044718v1

Neurographie IRM quantitative de patients atteints d’une neuropathie de Charcot-Marie-Tooth de type 1A

Etienne Fortanier , Augustin C. Ogier , Marie-Noëlle Lefebvre , Émilien Delmont , David Bendahan , et al.
17es Journées de la Société Française de Myologie (JSFM), Nov 2019, Marseille, France
Conference poster hal-02438588v1

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Amélie Pinard , Nathalie Eudes , Julia Mitchell , Fanny Bajolle , Maude Grelet , et al.
MOLECULAR BIOLOGY REPORTS, 2018, 45 (5), pp.1507-1513. ⟨10.1007/s11033-018-4212-x⟩
Journal articles hal-01991345v1

Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices

Maéva Langouët Langouët , Dennis Mircsof , Marlène Rio , Jeanne Amiel , Steven Brown , et al.
Médecine/Sciences, 2016, 32 (6-7), pp.571-573. ⟨10.1051/medsci/20163206015⟩
Journal articles hal-02142248v1

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 , Stéphane Zaffran , Valerie Deplano
Printemps de la Cardiologie - Recherche Fondamentale et Clinique, Apr 2019, Lille, France
Conference papers hal-02399273v1

High Serum Vitamin B12 Levels Associated with C‐Reactive Protein in Older Patients with Cancer

Anne‐laure Couderc , Eddy Puchades , Patrick Villani , Robin Arcani , Laure Farnault , et al.
Oncologist, 2020, 25 (12), ⟨10.1634/theoncologist.2019-0894⟩
Journal articles hal-03157027v1

Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

C. Hernandez-Ferrer , A. Corvó , L. Matalonga , R. Thompson , L. Carmody , 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 , Rabah Ben Yaou , Karim Wahbi , Annachiara de Sandre-Giovannoli , Corinne Vigouroux , et al.
Journal of Neuromuscular Diseases, 2021, pp.1 - 21. ⟨10.3233/jnd-200596⟩
Journal articles hal-03171665v1

Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma

Jacques W.M. Lenders , Michiel Kerstens , Laurence Amar , Aleksander Prejbisz , Mercedes Robledo , et al.
Journal of Hypertension, 2020, Publish Ahead of Print, ⟨10.1097/HJH.0000000000002438⟩
Journal articles 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 , David Grojo , Christoph Drouet , Alexandros Mouskeftaras , Philippe Delaporte , et al.
Nanomaterials, 2021, 11 (3), pp.712. ⟨10.3390/nano11030712⟩
Journal articles hal-03167757v1

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Lucie Coppin , Margaux Dufosse , Pauline Romanet , Sophie Giraud , Marie-Odile North , et al.
European Journal of Endocrinology, 2020, 182, pp.57 - 65. ⟨10.1530/eje-19-0641⟩
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 , Corinne Bouvier , Doriane Barets , Nicolas Macagno , Mathieu Chocry , et al.
Cancers, 2020, 12 (3), pp.583. ⟨10.3390/cancers12030583⟩
Journal articles hal-03101390v1
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An AI-Powered Blood Test to Detect Cancer Using NanoDSF

Philipp A Tsvetkov , Rémi Eyraud , Stéphane Ayache , Anton A Bougaev , Soazig Malesinski , et al.
Cancers, 2021, 13 (6), pp.1294. ⟨10.3390/cancers13061294⟩
Journal articles hal-03169412v1

Pasireotide for acromegaly: long-term outcomes from an extension to the Phase III PAOLA study

Annamaria Colao , Marcello Bronstein , Thierry Brue , Laura de Marinis , Maria Fleseriu , et al.
European Journal of Endocrinology, 2020, 182 (6), pp.583. ⟨10.1530/EJE-19-0762⟩
Journal articles hal-03222577v1
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Evaluation of an individualized education program in pituitary diseases: a pilot study

Frédérique Albarel , I Pellegrini , H Rahabi , C Baccou , L Gonin , et al.
European Journal of Endocrinology, 2020, 183 (6), pp.551-559. ⟨10.1530/EJE-20-0652⟩
Journal articles hal-03223111v1

Facioscapulohumeral Muscular Dystrophy—a Tale of Heterogeneity and the Power of Clinical Assessments

Karine Nguyen , Jérôme Robin-Ducellier
JAMA Network Open, 2020, 3 (5), pp.e205004. ⟨10.1001/jamanetworkopen.2020.5004⟩
Journal articles hal-03080379v1

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel , Daniela Zeitler , Margot Reijnders , Andriy Kazantsev , Fatemeh Hassani Nia , et al.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-19572-5⟩
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 , Flavie Ader , Maguelonne Roux , Erwan Donal , Jean-Christophe Eicher , et al.
Clinical Genetics, 2019, 95 (3), pp.356-367. ⟨10.1111/cge.13484⟩
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 , Frédérique Magdinier , G. Léonetti , C. Bartoli , J. Chiaroni , et al.
La Revue de Médecine Légale, 2019, ⟨10.1016/j.medleg.2019.07.001⟩
Journal articles hal-02407527v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard , et al.
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Journal articles hal-02406985v1
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MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Diane Frankel , Valerie Delecourt , Sophie Perrin , Karim Harhouri , Annachiara de Sandre-Giovannoli , et al.
Aging Cell, 2018, 17 (4), pp.e12766. ⟨10.1111/acel.12766⟩
Journal articles hal-01925609v1

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 , Arthur Gavotto , Antoine Legendre , Kathleen Lavastre , Charlene Bredy , et al.
International Journal of Cardiology, 2019, 283, pp.112-118. ⟨10.1016/j.ijcard.2018.12.050⟩
Journal articles hal-02478898v1

2018 Consensus of the French Society of Endocrinology: endocrine toxicities of cancer immunotherapies

Frederic Castinetti , Francoise Borson-Chazot , Frederique Aibarel , Francoise Archambeaud , Jerome Bertherat , et al.
Correspondances en Métabolismes, Hormones, Diabètes et Nutrition, 2019, 23 (2), pp.31-36
Journal articles hal-02478900v1

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Océane Landon-Cardinal , Diane Friedman , Marguerite Guiguet , Pascal Laforet , Nicholas Heming , et al.
Journal of Neuromuscular Diseases, 2018, 5 (2), pp.241-249. ⟨10.3233/JND-180300⟩
Journal articles hal-02377514v1