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40 résultats

	Pour les 40 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Arnaud Blanchard , Morgane Miltgen , et al. Human Mutation, 2016, 37 (5), pp.439 - 446. ⟨10.1002/humu.22965⟩ Article dans une revue hal-01670164v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Overview of the interactive task in BioCreative V Qinghua Wang , Shabbir S. Abdul , Lara Almeida , Sophia Ananiadou , Yalbi I. Balderas-Martinez , et al. Database - The journal of Biological Databases and Curation, 2016, 2016, ⟨10.1093/database/baw119⟩ Article dans une revue hal-01469079v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Transgenesis and web resources in quail Olivier Serralbo , David Salgado , Nadège Véron , Caitlin Cooper , Marie-Julie Dejardin , et al. eLife, 2020, 9, ⟨10.7554/eLife.56312⟩ Article dans une revue hal-03222583v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		VarAFT: a variant annotation and filtration system for human next generation sequencing data Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen , et al. Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩ Article dans une revue hal-01852493v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud , et al. Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩ Article dans une revue hal-01610021v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		[OISO, automatic treatment of patients management in oncogenetics]. Celine Guien , Aurelie J Fabre , Arnaud Lagarde , David Salgado , Catherine Gensollen-Thiriez , et al. Bulletin du Cancer, 2017, 104 (7-8), pp.602 - 607. ⟨10.1016/j.bulcan.2017.06.003⟩ Article dans une revue hal-01680483v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text Martin Krallinger , Miguel Vazquez , Florian Leitner , David Salgado , Andrew Chatr-Aryamontri , et al. BMC Bioinformatics, 2011, 12 (Suppl 8), ⟨10.1186/1471-2105-12-S8-S3⟩ Article dans une revue hal-01780325v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Piezo1 is required for outflow tract and aortic valve development Adèle Faucherre , Hamid Moha Ou Maati , Nathalie Nasr , Amélie Pinard , Alexis Theron , et al. 2019 Pré-publication, Document de travail hal-02404255v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		IFB/ELIXIR-FR, the french node of ELIXIR Anne-Françoise Adam-Blondon , Jacques van Helden , Gildas Le Corguillé , Christophe Blanchet , Hélène Chiapello , et al. ISMB ECCB 2023, International Society for Computational Biology, Jul 2023, Lyon, France Communication dans un congrès hal-04503051v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases Amélie Pinard , David Salgado , Jean-Pierre Desvignes , Ghadi Rai , Nadine Hanna , et al. Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩ Article dans une revue hal-01457375v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe Catherine Bladen , Rachel Thompson , Jacqueline M Jackson , Connie Garland , Claire Wegel , et al. Journal of Neurology, 2014, 261 (1), pp.152 - 163. ⟨10.1007/s00415-013-7154-1⟩ Article dans une revue hal-01681799v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database Zaïda Koeks , Catherine L Bladen , David Salgado , Erik van Zwet , Oksana Pogoryelova , et al. Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293 - 306. ⟨10.3233/JND-170280⟩ Article dans une revue hal-01681734v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Neural crest regulates myogenesis through the transient activation of NOTCH Anne Rios , Olivier Serralbo , David Salgado , Christophe Marcelle Nature, 2011, 473 (7348), pp.532 - 535. ⟨10.1038/nature09970⟩ Article dans une revue istex hal-01780066v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE) Eric Deutsch , Catherine Ball , Jules Berman , G Steven Bova , Alvis Brazma , et al. Nature Biotechnology, 2008, 26 (3), pp.305 - 312. ⟨10.1038/nbt1391⟩ Article dans une revue hal-01780056v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Minimum information specification for in situ hybridization and immunohistochemistry experiments E.W. Deutsch , C.A. Ball , J.J. Berman , G.S. Bova , A. Brazma , et al. Nature Biotechnology, 2008, 26 (3), pp.305-12 Article dans une revue hal-00303113v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard , et al. Journal of Genetics, 2016, 95 (1), pp.203-208 Article dans une revue hal-01469051v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Catherine Bladen , David Salgado , Soledad Monges , Maria E Foncuberta , Kyriaki Kekou , et al. Human Mutation, 2015, 36 (4), pp.395 - 402. ⟨10.1002/humu.22758⟩ Article dans une revue hal-01681769v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		TGFβ signalling acts as a molecular brake of myoblast fusion Julie Melendez , Daniel Sieiro , David Salgado , Valérie Morin , Marie-Julie Dejardin , et al. Nature Communications, 2021, 12 (1), pp.749. ⟨10.1038/s41467-020-20290-1⟩ Article dans une revue hal-03662775v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Alexandre Kreisler , Jean-Pierre Desvignes , et al. Movement Disorders, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩ Article dans une revue hal-01670172v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New advances in DPYD genotype and risk of severe toxicity under capecitabine Marie-Christine Etienne-Grimaldi , Christophe Boyer , Christophe Béroud , Litaty Mbatchi , André van Kuilenburg , et al. PLoS ONE, 2017, 12 (5), pp.e0175998. ⟨10.1371/journal.pone.0175998⟩ Article dans une revue hal-01780001v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		BRCA Share: A Collection of Clinical BRCA Gene Variants Christophe Béroud , Stanley I Letovsky , Corey D Braastad , Sandrine M Caputo , Olivia Beaudoux , et al. Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩ Article dans une revue hal-01670197v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		QUANTUM MECHANICS AND MAGIC: AN OPEN DISCUSSION Miguel Ferrero , David Salgado , José Luís Sánchez-Gómez 2014 Pré-publication, Document de travail hal-01057583v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Actionable Genes, Core Databases, and Locus-Specific Databases Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes , et al. Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩ Article dans une revue hal-01469071v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher , et al. Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩ Article dans une revue hal-02140150v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program O. Tassy , D. Dauga , F. Daian , D. Sobral , F. Robin , et al. Genome Research, 2010, 20 (10), pp.1459-68. ⟨10.1101/gr.108175.110⟩ Article dans une revue hal-00555212v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Laurent Jallades , Lucile Baseggio , Pierre Sujobert , Sarah Huet , Kaddour Chabane , et al. Haematologica, 2017, 102 (10), pp.1758 - 1766. ⟨10.3324/haematol.2016.160192⟩ Article dans une revue hal-01583112v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Piezo1 is required for outflow tract and aortic valve development. Adèle Faucherre , Hamid Moha Ou Maati , Nathalie Nasr , Amélie Pinard , Alexis Theron , et al. Journal of Molecular and Cellular Cardiology, 2020, 143, pp.51-62. ⟨10.1016/j.yjmcc.2020.03.013⟩ Article dans une revue hal-02863713v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a peripheral blood gene signature predicting aortic valve calcification Donal Macgrogan , Beatriz Martínez-Poveda , Jean-Pierre Desvignes , Leticia Fernandez-Friera , Manuel José Gomez , et al. Physiological Genomics, 2020, 52 (12), pp.563-574. ⟨10.1152/physiolgenomics.00034.2020⟩ Article dans une revue hal-02965646v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis Tui Neri , Emilye Hiriart , Patrick P. Van Vliet , Emilie Faure , Russell A. Norris , et al. Nature Communications, 2019, 10, pp.1929. ⟨10.1038/s41467-019-09459-5⟩ Article dans une revue hal-02461454v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		COMPARE, a multi-organism system for cross-species data comparison and transfer of information David Salgado , G. Gimenez , F. Coulier , C. Marcelle Bioinformatics, 2008, 24 (3), pp.447-449. ⟨10.1093/bioinformatics/btm599⟩ Article dans une revue hal-00305995v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Overview of the interactive task in BioCreative V

Transgenesis and web resources in quail

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

[OISO, automatic treatment of patients management in oncogenetics].

The Protein-Protein Interaction tasks of BioCreative III: classification/ranking of articles and linking bio-ontology concepts to full text

Piezo1 is required for outflow tract and aortic valve development

IFB/ELIXIR-FR, the french node of ELIXIR

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Neural crest regulates myogenesis through the transient activation of NOTCH

Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE)

Minimum information specification for in situ hybridization and immunohistochemistry experiments

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

TGFβ signalling acts as a molecular brake of myoblast fusion

Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia

New advances in DPYD genotype and risk of severe toxicity under capecitabine

BRCA Share: A Collection of Clinical BRCA Gene Variants

QUANTUM MECHANICS AND MAGIC: AN OPEN DISCUSSION

Actionable Genes, Core Databases, and Locus-Specific Databases

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

The ANISEED database: digital representation, formalization, and elucidation of a chordate developmental program

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Piezo1 is required for outflow tract and aortic valve development.

Identification of a peripheral blood gene signature predicting aortic valve calcification

Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis

COMPARE, a multi-organism system for cross-species data comparison and transfer of information