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Brominated flame retardants at the farm scale: outputs of the French project BRAVIPORC” (2013–2016)

Ronan Cariou , Elisabeth Baéza , Elena Dominguez-Romero , A Leon , Elsa Omer , et al.
37. International Symposium on Halogenated Persistent Organic Pollutants (POPs) - DIOXIN 2017, 2017, Vancouver, Canada. 2017
Conference poster hal-02787113v1

Transfer to eggs of alpha-HBCD ingested by laying hens

Elena Domínguez-Romero , Ronan Cariou , Elisabeth Baéza , Anais Venisseau , Philippe Marchand , et al.
11. Journées de la Recherche Avicole et Palmipèdes à Foie Gras, 2015, Tours, France
Conference papers hal-02740386v1
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Christophe Béroud , Sylvie Tuffery-Giraud , Masafumi Matsuo , Dalil Hamroun , Véronique Humbertclaude , et al.
Human Mutation, 2007, 28 (2), pp.196-202. ⟨10.1002/humu.20428⟩
Journal articles istex inserm-00381940v1


Emiliane Taillebois , Emilie Heuland , Céline Bourdin , Audrey Griveau , Sophie Quinchard , et al.
Archives of Insect Biochemistry and Physiology, 2013, 83 (3), pp.138-150. ⟨10.1002/arch.21102⟩
Journal articles istex hal-02268781v1
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About monitoring the dynamics of phase transition in food and biology by microphotonics: detecting soft-matter process

Lucas Garnier , Rigoberto Castro-Beltran , A. Saint-Jalmes , H. Lhermite , Anne-Laure Fameau , et al.
Proceedings of SPIE, the International Society for Optical Engineering, 2020, Integrated Photonics Platforms: Fundamental Research, Manufacturing and Applications, V11364, pp.113641T.1-8. ⟨10.1117/12.2564645⟩
Journal articles hal-02405538v1
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Autosomal recessive primary microcephaly due to ASPM mutations: An update

Pascaline Létard , Séverine Drunat , Yoann Vial , Sarah Duerinckx , Anais Ernault , et al.
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
Journal articles hal-02393637v1

Predictive ecology in a changing world

Nicolas Mouquet , Yvan Lagadeuc , Vincent Devictor , Luc L. Doyen , Anne Duputié , et al.
Journal of Applied Ecology, 2015, 52 (5), pp.1293-1310. ⟨10.1111/1365-2664.12482⟩
Journal articles hal-01180277v1

Ribosomopathies: New Therapeutic Perspectives

Emilien Orgebin , François Lamoureux , Bertrand Isidor , Céline Charrier , Benjamin Ory , et al.
Cells, 2020, 9 (9), pp.2080. ⟨10.3390/cells9092080⟩
Journal articles hal-03000764v1
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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Guntram Borck , Anahi Mollà-Herman , Nathalie Boddaert , Ferechte Encha-Razavi , Anne Philippe , et al.
Human Mutation, 2008, 29 (7), pp.966-974. ⟨10.1002/humu.20531⟩
Journal articles hal-02044435v1
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Integrated clinical and omics approach to rare diseases novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim , Clara Savary , Christèle Dubourg , Wilfrid Carré , Charlotte Mouden , et al.
Brain - A Journal of Neurology , 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Journal articles hal-01975696v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia , et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1

The morphogenetic role of midline mesendoderm and ectoderm in the development of the forebrain and the midbrain of the mouse embryo.

Anne Camus , B Davidson , S Billiards , P Khoo , J Rivera-Pérez , et al.
Development (Cambridge, England), 2000, 127 (9), pp.1799-813
Journal articles hal-03048884v1
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11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability Role of FLI1, ETS1, and SENCR long noncoding RNA

Solène Conrad , Florence Demurger , Kamran Moradkhani , Olivier Pichon , Cédric Le Caignec , et al.
American Journal of Medical Genetics Part A, 2019, 179 (6), pp.993-1000. ⟨10.1002/ajmg.a.61113⟩
Journal articles hal-02091219v1

The genetic history of France

Aude Saint-Pierre , Joanna Giemza , Isabel Alves , Matilde Karakachoff , Marinna Gaudin , et al.
European Journal of Human Genetics, 2020, 28 (7), pp.853-865. ⟨10.1038/s41431-020-0584-1⟩
Journal articles hal-02480238v1
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Atelier MoDaL (Multi-Scale Data Links)

Aurélien Cornet , Christian Barillot , Olivier Dameron , Alban Gaignard , Camille Maumet , et al.
[Rapport de recherche] IRISA, Inria Rennes. 2020
Reports inserm-02507799v4
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt , et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1
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Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project

Romain Bourcier , Stéphanie Chatel , Emmanuelle Bourcereau , Solène Jouan , Hervé Le Marec , et al.
Neurosurgery, 2017, 80 (4), pp.621-626. ⟨10.1093/neuros/nyw135⟩
Journal articles hal-01768333v1
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance Rodan , Rebecca Spillmann , Harley Kurata , Shawn Lamothe , Jasmine Maghera , et al.
Genetics in Medicine, 2021, 23 (10), pp.1922-1932. ⟨10.1038/s41436-021-01232-8⟩
Journal articles hal-03519600v1
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Relapsed diffuse large B-cell lymphoma present different genomic profiles between early and late relapses

Julien Broséus , Gaili Chen , Sébastien Hergalant , Gérard Ramstein , Nicolas Mounier , et al.
Oncotarget, 2016, 7 (51), pp.83987-84002. ⟨10.18632/oncotarget.9793⟩
Journal articles hal-02314515v1
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon , Mathieu Milh , François Feillet , Judith St-Onge , Yannis Duffourd , et al.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Journal articles hal-01668025v1
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Microphotonics for monitoring the supramolecular thermoresponsive behavior of fatty acid surfactant solutions

R. Castro-Beltrán , Lucas Garnier , A. Saint-Jalmes , Hervé Lhermite , H. Cormerais , et al.
Optics Communications, 2020, 468, pp.125773. ⟨10.1016/j.optcom.2020.125773⟩
Journal articles hal-02512815v1

Rituximab for induction and maintenance treatment of ANCA-associated vasculitides: a multicentre retrospective study on 80 patients

Pierre Charles , Antoine Néel , Nathalie Tieulié , Arnaud Hot , Gregory Pugnet , et al.
Rheumatology, 2014, 53 (3), pp.532--539. ⟨10.1093/rheumatology/ket381⟩
Journal articles hal-01064298v1
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Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy

Cécilia Marelli , Stéphanie Badiou , Steeve Genestet , L. Larrieu , P. Damier , et al.
Neurological Sciences, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
Journal articles hal-02524578v1
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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Chloé Angelini , Julien van Gils , Antoine Bigourdan , Pierre-Simon Jouk , Didier Lacombe , et al.
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.011⟩
Journal articles hal-01952641v1

The impact of transposable elements on eukaryotic genomes: From genome size increase to genetic adaptation to stressful environments

Benoît Chénais , Aurore Caruso , Sophie Hiard , Nathalie Casse
Gene, 2012, 509 (1), pp.7-15. ⟨10.1016/j.gene.2012.07.042⟩
Journal articles hal-02050257v1

A pilot study of genetic differentiation between two phenotypes of a Mediterranean population of the bivalve Cerastoderma glaucum and genetic discrimination with other Cerastoderma glaucum and Cerastoderma edule populations outside the Mediterranean

Rim Ladhar-Chaabouni , Amel Hamza-Chaffai , Yann Hardivillier , Benoît Chénais , Françoise Denis
Marine Ecology, 2010, 31 (2), pp.355-363. ⟨10.1111/j.1439-0485.2009.00338.x⟩
Journal articles istex hal-02050261v1

Mutations of the Cystic Fibrosis Gene in Patients with Bronchiectasis Associated with Rheumatoid Arthritis

Xavier Puéchal , Thierry Bienvenu , Emmanuelle Genin , Jean-Marie Berthelot , Jean Sibilia , et al.
Annals of the Rheumatic Diseases, 2011, 70 (4), pp.653--659. ⟨10.1136/ard.2010.142760⟩
Journal articles istex hal-02084404v1
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Did the new French pay-for-performance system modify benzodiazepine prescribing practices?

Cédric Rat , Gaëlle Penhouet , Aurélie Gaultier , Anicet Chaslerie , Jacques Pivette , et al.
BMC Health Services Research, 2014, 14, pp.301. ⟨10.1186/1472-6963-14-301⟩
Journal articles inserm-01072525v1

[Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies] : Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d'experts sous l'égide de la Société française de neuropathologie, de la Société française de myologie et de l'Association française contre les myopathies

E. Uro-Soste , C. Fernandez , François-Jérôme Authier , G. Bassez , C. Butori , et al.
Revue Neurologique, 2010, 166 (5), pp.477-85. ⟨10.1016/j.neurol.2010.03.015⟩
Journal articles hal-00629866v1

SNP‐HLA Reference Consortium (SHLARC): HLA and SNP data sharing for promoting MHC‐centric analyses in genomics

Nicolas Vince , Venceslas Douillard , Estelle Geffard , Diogo Meyer , Erick Castelli , et al.
Genetic Epidemiology, 2020, 44 (7), pp.733-740. ⟨10.1002/gepi.22334⟩
Journal articles hal-03336352v1