المؤلفون: Etienne Dougy, Dominique Figarella-Branger, Pierre-Emmanuel Morange, Annachiara De Sandre-Giovannoli, Bruno Lacarelle, Karine Bertaux, Karine Pedeillier, Noémie Saut, Carine Jiguet-Jiglaire, Soutsakhone Tong, Karine Achache

المصدر: Open Journal of Bioresources, Vol 7, Iss 1 (2020)

مصطلحات موضوعية: certified quality management system, neoplasm, rare genetic diseases, hematological diseases, cardiovascular diseases, Medicine, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

العلاقة: https://openbioresources.metajnl.com/articles/63Test; https://doaj.org/toc/2056-5542Test

الوصول الحر: https://doaj.org/article/34fff7e41f594f41978c567f03f61f63Test

المؤلفون: Megane Delourme, Chaix Charlene, Laurene Gerard, Benjamin Ganne, Pierre Perrin, Catherine Vovan, Karine Bertaux, Karine Nguyen, Rafaëlle Bernard, Frederique Magdinier

المصدر: Neurology Genetics. 9:e200076

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd840c132b9fae4d6a695f1c5669e06fTest
https://doi.org/10.1212/nxg.0000000000200076Test

المؤلفون: Aline Cano, Melissa Baravalle, Caroline Lacoste, Anne-Sophie Monnier, Alexandre Fabre, Marie Loosveld, Véronique Secq, Marie-Edith Coste, Catherine Badens, Patrice Bourgeois, Nicolas Lévy, Céline Roman, Violaine Bresson, André Maues De Paula, Cécile DeLeusse, Karine Bertaux, Clothilde Esteve, Clémence Delteil, Frederic Blanc

المساهمون: Département d’Anatomopathologie [Institut Paoli-Calmettes, Marseille], Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2021, 64 (10), pp.104294. ⟨10.1016/j.ejmg.2021.104294⟩

مصطلحات موضوعية: Lung Diseases, Developmental Disabilities, Aminoacylation, Disease, Biology, Loss of Function Mutation, Tyrosine-tRNA Ligase, Genetics, medicine, Humans, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Liver Diseases, Infant, General Medicine, Failure to Thrive, Multisystem disease, Cytoplasm, Failure to thrive, Female, medicine.symptom, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56bc4cb8564fa16dde90336caba19addTest
https://doi.org/10.1016/j.ejmg.2021.104294Test

المؤلفون: Marc Bartoli, Salam Koussa, Nathalie Bernard-Marissal, Rosette Jabbour, Khalil Rihan, Christel Castro, André Mégarbané, Valérie Delague, Nicolas Lévy, Lara El-Bazzal, Alexandre Atkinson, Jean-Pierre Desvignes, Eliane Chouery-Khoury, Karine Bertaux

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Génétique Médicale, Université Saint-Joseph de Beyrouth (USJ), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Department of Neurology, Lebanese University Hospital-Geitaoui, Institut Jérôme Lejeune, Centre Médical et Psychopédagogique (CEMEDDIP), University of Balamand [Liban] (UOB), delague, valérie, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Balamand - UOB (LIBAN)

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2019, ⟨10.1093/hmg/ddz060⟩

مصطلحات موضوعية: Male, 0301 basic medicine, relationship - sibling, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.GEN] Life Sciences [q-bio]/Genetics, medicine.disease_cause, Compound heterozygosity, 0302 clinical medicine, neuritis, genes, Genetics (clinical), Mutation, phosphorylation, catabolism, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, General Medicine, Middle Aged, Phenotype, motor, medicine.anatomical_structure, cytoplasm, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Coilin, Proteasome Inhibitors, Adult, Neurite, phenotype, Induced Pluripotent Stem Cells, Protein Serine-Threonine Kinases, Biology, 03 medical and health sciences, fibroblasts, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Exome Sequencing, Genetics, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Humans, nervous system disorders, motor neurons, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Motor Neuron Disease, Molecular Biology, vaccinia, [SDV.GEN]Life Sciences [q-bio]/Genetics, cell nucleus, Motor neuron, heterozygote, Cell nucleus, 030104 developmental biology, Cajal body, coiled bodies, phosphotransferases, mutation, Protein Processing, Post-Translational, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379ad8ce8f9b1eb0c81979c36fc1c62aTest
https://hal-amu.archives-ouvertes.fr/hal-02152040/documentTest

المؤلفون: Jacques Pradel, Karine Bertaux, Rakesh Mishra, Nicholas S. Tolwinski, Ali Sarkeshik, Benjamin Goirand, Dasari Vasanthi, Yacine Graba, Soda Balla Diop, John R. Yates, Andrew J. Saurin, Denise Aragnol, Michael D. Cole

المساهمون: Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: EMBO Reports
EMBO Reports, EMBO Press, 2008, 9, pp.260-266
EMBO Reports, 2008, 9, pp.260-266
Europe PubMed Central

مصطلحات موضوعية: Chromosomal Proteins, Non-Histone, Polycomb-Group Proteins, Cell Cycle Proteins, Drosophila Proteins/isolation & purification/*metabolism, Biochemistry, 0302 clinical medicine, Transcriptional regulation, RUVBL2, Drosophila Proteins, Hox gene, ComputingMilieux_MISCELLANEOUS, Repressor Proteins/*metabolism, Regulation of gene expression, Genetics, 0303 health sciences, DNA Helicases/isolation & purification/*metabolism, Chromosomal Proteins, Drosophila melanogaster, Non-Histone/*metabolism, PRC1, Protein Binding, animal structures, Mutation/genetics, Scientific Report, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, macromolecular substances, Trithorax-group proteins, Biology, Homeodomain Proteins/*genetics, 03 medical and health sciences, Brahma complex, Polycomb-group proteins, Animals, Drosophila melanogaster/cytology/*genetics, Gene Silencing, Cell Cycle Proteins/isolation & purification/metabolism, Molecular Biology, Carrier Proteins/*metabolism, 030304 developmental biology, Homeodomain Proteins, fungi, DNA Helicases, Repressor Proteins, Gene Expression Regulation, Mutation, Trans-Activators, Trans-Activators/isolation & purification/metabolism, Carrier Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be7de959a93b534181c0e6ee44122e7Test
https://doi.org/10.1038/embor.2008.8Test

المؤلفون: Francesca Puppo, Catherine Vovan, Rafaëlle Bernard, Christel Castro, Yukiko K. Hayashi, Eugénie Dionnet, Martin Krahn, Nicolas Lévy, Françoise Helmbacher, Kanako Goto, Karine Bertaux, Shahram Attarian, Ichizo Nishino, Frédérique Magdinier, Marc Bartoli, Pascaline Gaildrat, Marie-Cécile Gaillard

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Bartoli, Marc, Aix Marseille Université (AMU)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital de la Timone [CHU - APHM] ( TIMONE ), Institut de Biologie du Développement de Marseille ( IBDM ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS )

المصدر: Human Mutation
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, 2015, 36 (4), pp.443-453. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-53. ⟨10.1002/humu.22760⟩
Human Mutation, Wiley, 2015, 36 (4), pp.443-453. 〈10.1002/humu.22760〉

مصطلحات موضوعية: Gene Expression, medicine.disease_cause, Exon, 0302 clinical medicine, facioscapulo- humeral dystrophy, Genes, Reporter, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, Child, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Exons, Middle Aged, Cadherins, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Child, Preschool, RNA splicing, Chromosomes, Human, Pair 4, FAT1, musculoskeletal diseases, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, medicine, Humans, Allele, Gene, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Alleles, 030304 developmental biology, Aged, Alternative splicing, Infant, Newborn, Genetic Variation, Infant, facioscapulohumeral dystrophy, Sequence Analysis, DNA, DNA Methylation, Molecular biology, Alternative Splicing, FAT1-protocadherin, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, neuromuscular pathology, 030217 neurology & neurosurgery, Minigene

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7b485af8e0f9cf92a90b1d68d97ba7fTest
https://pubmed.ncbi.nlm.nih.gov/25615407Test

المؤلفون: Pierre Hardouin, Joseph Jeanfils, Jean-Christophe Devedjian, Karine Bertaux, Christophe Chauveau, Odile Broux

المصدر: Bone. 38(6)

مصطلحات موضوعية: musculoskeletal diseases, Histology, Physiology, G protein, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Core Binding Factor Alpha 1 Subunit, Biology, Collagen Type I, Mice, Cell Line, Tumor, Gene expression, medicine, GNAS complex locus, Chromogranins, Cyclic AMP, GTP-Binding Protein alpha Subunits, Gs, Animals, Humans, RNA, Messenger, Promoter Regions, Genetic, Gene, Cell Nucleus, Differential display, Binding Sites, Base Sequence, Osteoblast, Transfection, Molecular biology, RUNX2, medicine.anatomical_structure, Gene Expression Regulation, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e619b5e332d6abc588655c44b7d866bTest
https://pubmed.ncbi.nlm.nih.gov/16442859Test

المؤلفون: Odile Broux, Christophe Chauveau, Karine Bertaux, Joseph Jeanfils, Jean-Christophe Devedjian

المصدر: Journal of bone and mineral metabolism. 23(2)

مصطلحات موضوعية: Ribosomal Proteins, Endocrinology, Diabetes and Metabolism, Regulator, Osteoclasts, Core Binding Factor Alpha 1 Subunit, Biology, 12E7 Antigen, Transfection, Polymerase Chain Reaction, Endocrinology, Antigens, CD, Cell Line, Tumor, Gene expression, Humans, Orthopedics and Sports Medicine, Selenoproteins, Gene, Transcription factor, Genetics, Differential display, Osteosarcoma, Cell growth, Proteins, General Medicine, Clone Cells, Neoplasm Proteins, Up-Regulation, Cell culture, Eukaryotic Initiation Factor-4A, Cell Adhesion Molecules, Signal Transduction, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bcf34ac1de5bbebaf88e6312b2f619aTest
https://pubmed.ncbi.nlm.nih.gov/15750689Test

المؤلفون: Karine Bertaux, Odile Broux, Christophe Chauveau, Joseph Jeanfils, Jean-Christophe Devedjian

المصدر: Journal of Bone & Mineral Metabolism; Mar2005, Vol. 23 Issue 2, p114-122, 9p