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117 résultats

	Pour les 117 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 4 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

		Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies Melissa Alame , Delphine Lacourt , Reda Zenagui , Deborah Mechin , Fabienne Danton , et al. Journal of Molecular Diagnostics, 2016, 18 (5), pp.731 - 740. ⟨10.1016/j.jmoldx.2016.05.003⟩ Article dans une revue hal-01844590v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1 Christel Vaché , Jacques Puechberty , Valérie Faugère , Floriane Darmaisin , Alessandro Liquori , et al. Frontiers in Genetics, 2020, 11, pp.623. ⟨10.3389/fgene.2020.00623⟩ Article dans une revue hal-03257892v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Normal and altered pre-mRNA processing in the DMD gene Sylvie Tuffery-Giraud , Julie Miro , Michel Koenig , Mireille Claustres Human Genetics, 2017, 136 (9), pp.1155--1172. ⟨10.1007/s00439-017-1820-9⟩ Article dans une revue hal-01760830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation C. Guissart , C. Dubucs , C. Raynal , A. Girardet , F. Tran Mau Them , et al. Journal of Cystic Fibrosis, 2017, 16 (2), pp.198 - 206. ⟨10.1016/j.jcf.2016.12.011⟩ Article dans une revue hal-01792996v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle Anne-Laure Bouge , Eva Murauer , Emmanuelle Beyne , Julie Miro , Jessica Varilh , et al. Scientific Reports, 2017, 7, pp.39094. ⟨10.1038/srep39094⟩ Article dans une revue hal-01792956v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control Claire Guissart , Vanessa Debant , Marie Desgeorges , Corinne Bareil , Caroline Raynal , et al. Clinical Chemistry and Laboratory Medicine, 2015, 53 (2), pp.205-15. ⟨10.1515/cclm-2014-0501⟩ Article dans une revue hal-02273004v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases Martial Mallaret , Mathilde Renaud , Claire Redin , Nathalie Drouot , Jean Muller , et al. Journal of Neurology, 2016, 263 (7), pp.1314 - 1322. ⟨10.1007/s00415-016-8112-5⟩ Article dans une revue hal-01405178v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Laboratory Observation of Radiative Shock Deceleration and Application to SN 1987A Koenig M , Paul Mabey The Astrophysical Journal, 2020, 888 (1), ⟨10.3847/1538-4357/ab5956⟩ Article dans une revue hal-03021096v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pitfalls in molecular diagnosis of Friedreich ataxia Giulia Barcia , Myriam Rachid , Maryse Magen , Zahra Assouline , Michel Koenig , et al. European Journal of Medical Genetics, 2018, 61 (8), pp.455--458. ⟨10.1016/j.ejmg.2018.03.004⟩ Article dans une revue hal-02350803v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Innovative Education and Training in high power laser plasmas (PowerLaPs) for plasma physics, high power laser–matter interactions and high energy density physics – theory and experiments John Pasley , Georgia Andrianaki , Andreas Baroutsos , Dimitri Batani , Emmanouil Benis , et al. High Power Laser Science and Engineering, 2019, 7, ⟨10.1017/hpl.2019.7⟩ Article dans une revue hal-02326866v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Claudia Gonzaga-Jauregui , Tamar Harel , Tomasz Gambin , Maria Kousi , Laurie Griffin , et al. Cell Reports, 2015, 12 (7), pp.1169-1183. ⟨10.1016/j.celrep.2015.07.023⟩ Article dans une revue hal-01958695v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients D. Baux , C. Vache , Christophe Blanchet , M. Willems , C. Baudoin , et al. Scientific Reports, 2017, 7, pp.16783. ⟨10.1038/s41598-017-16846-9⟩ Article dans une revue hal-01740192v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene Julie Miro , Anne-Laure Bougé , Eva Murauer , Emmanuelle Beyne , Dylan da Cunha , et al. International Journal of Molecular Sciences, 2020, 21 (20), pp.7803. ⟨10.3390/ijms21207803⟩ Article dans une revue hal-03234304v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Effects of the treatment of straw with NaOH and urea solutions on ingestibility and digestibility in sheep H Saleh , M Koenig , Jc Millot , Jl Tisserand Reproduction Nutrition Development, 1990, 30 (Suppl2), pp.173s-173s Article dans une revue hal-00899332v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		X-ray absorption spectroscopy of iron at multimegabar pressures in laser shock experiments M Harmand , A Ravasio , S Mazevet , J Bouchet , A Denoeud , et al. Physical Review B: Condensed Matter and Materials Physics (1998-2015), 2015, 92 (2), pp.024108. ⟨10.1103/PhysRevB.92.024108⟩ Article dans une revue hal-01281730v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome V. Th Ramaekers , K. Segers , J. M. Sequeira , Michel Koenig , L. van Maldergem , et al. Molecular Genetics and Metabolism, 2018, 124 (1), pp.87--93. ⟨10.1016/j.ymgme.2018.03.001⟩ Article dans une revue hal-02350942v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A novel autosomal dominant leukodystrophy with specific MRI pattern A. Corlobé , F. Taithe , Pierre Clavelou , E. Pierre , C. Carra-Dallière , et al. Journal of Neurology, 2015, 262 (4), pp.988 - 991. ⟨10.1007/s00415-015-7660-4⟩ Article dans une revue hal-01936604v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset Chloé Laurencin , Mathieu Anheim , Lise Larrieu , Caroline Tilikete , Michel Koenig , et al. Journal of Neurology, 2015, 262 (5), pp.1366-1368. ⟨10.1007/s00415-015-7717-4⟩ Article dans une revue hal-02009097v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay Julie Pilliod , Sébastien Moutton , Julie Lavie , Elise Maurat , Christophe Hubert , et al. Annals of Neurology, 2015, 78 (6), pp.871-886. ⟨10.1002/ana.24509⟩ Article dans une revue istex hal-01955612v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein L. L. Mariani , S. Rivaud-Péchoux , P. Charles , C. Ewenczyk , A. Meneret , et al. Scientific Reports, 2017, 7 (1), pp.15284. ⟨10.1038/s41598-017-15127-9⟩ Article dans une revue hal-01742105v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Friedreich ataxia: the oxidative stress paradox. Hervé Seznec , Delphine Simon , Cécile Bouton , Laurence Reutenauer , Ariane Hertzog , et al. Human Molecular Genetics, 2005, 14 (4), pp.463-74. ⟨10.1093/hmg/ddi042⟩ Article dans une revue hal-00187760v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Justine Géraud , Klaus Dieterich , John Rendu , Emmanuelle Uro Coste , Murielle Dobrzynski , et al. Journal of Medical Genetics, 2020, ⟨10.1136/jmedgenet-2019-106714⟩ Article dans une revue hal-02964560v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans Jack Collier , Claire Guissart , Monika Oláhová , Souphatta Sasorith , Florence Piron-Prunier , et al. New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩ Article dans une revue hal-03270279v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies Aurélien Perrin , Raul Juntas Morales , Francois Rivier , Claude Cances , Ulrike Walther-Louvier , et al. Neuromuscular Disorders, 2020, ⟨10.1016/j.nmd.2020.09.032⟩ Article dans une revue hal-02985653v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assessment of the latest NGS enrichment capture methods in clinical context Gema García-García , David Baux , Valérie Faugère , Mélody Moclyn , Michel Koenig , et al. Scientific Reports, 2016, 6, pp.20948. ⟨10.1038/srep20948⟩ Article dans une revue hal-01879936v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses Christel Vaché , Simona Torriano , Valérie Faugère , Nejla Erkilic , David Baux , et al. Human Mutation, 2019, 40 (1), pp.31-35. ⟨10.1002/humu.23671⟩ Article dans une revue hal-02434908v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Enza Maria Valente , Sarah E Marsh , Marco Castori , Tracy Dixon-Salazar , Enrico Bertini , et al. Annals of Neurology, 2005, 57 (4), pp.513-9. ⟨10.1002/ana.20422⟩ Article dans une revue hal-00187791v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2 Florian Brugger , Michael Schüpbach , Michel Koenig , René M. Müri , Stephan Bohlhalter , et al. Movement Disorders Clinical Practice, 2014, 1 (2), pp.106-109. ⟨10.1002/mdc3.12021⟩ Article dans une revue hal-02436432v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency Aurélien Perrin , Corinne Metay , Marcello Villanova , Robert-Yves Carlier , Elena Pegoraro , et al. Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51031⟩ Article dans une revue hal-02573441v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Mathieu Anheim , Marie-Celine Fleury , Jerome Franques , Maria-Ceu Moreira , Jean-Pierre Delaunoy , et al. Archives of Neurology -Chigago-, 2008, 65 (7), pp.958-62. ⟨10.1001/archneur.65.7.958⟩ Article dans une revue inserm-00357160v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Normal and altered pre-mRNA processing in the DMD gene

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

Laboratory Observation of Radiative Shock Deceleration and Application to SN 1987A

Pitfalls in molecular diagnosis of Friedreich ataxia

Innovative Education and Training in high power laser plasmas (PowerLaPs) for plasma physics, high power laser–matter interactions and high energy density physics – theory and experiments

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene

Effects of the treatment of straw with NaOH and urea solutions on ingestibility and digestibility in sheep

X-ray absorption spectroscopy of iron at multimegabar pressures in laser shock experiments

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome

A novel autosomal dominant leukodystrophy with specific MRI pattern

Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

Friedreich ataxia: the oxidative stress paradox.

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Assessment of the latest NGS enrichment capture methods in clinical context

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

The Clinical Spectrum of Ataxia with Oculomotor Apraxia Type 2

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.