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المؤلفون: Bénédicte Héron, Bahia Dahmani, Claude Cances, Samia Pichard, Caroline Sevin, Philippe Latour, Didier Eyer, Fancois Labarthe, Thierry Levade, Brigitte Chabrol, Pierre Broué, Marie T. Vanier, Anaïs Brassier, Cecile Freihuber
المصدر: Molecular Genetics and Metabolism. 123:S48
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Endocrinology, Diabetes and Metabolism, Retrospective cohort study, General Medicine, Neurological disorder, medicine.disease, Biochemistry, Endocrinology, Pediatrics, Perinatology and Child Health, Miglustat, Genetics, Medicine, Neurology (clinical), business, Molecular Biology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e06bd451b664f68651116e7ad251b3aTest
https://doi.org/10.1016/j.ymgme.2017.12.109Test -
52
المؤلفون: Corinne Vigouroux, P. Laforêt, Marion Masingue, C. Vatier, Claude Jardel, Bruno Eymard, Philippe Latour, T. Stojkovic, Isabelle Jéru
المصدر: Neuromuscular Disorders. 27:S148
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Lipomatosis, MFN2, medicine.disease, Peripheral, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), business, Lipoatrophy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::44fd81236f5e48aa03ce42e81a9eff1dTest
https://doi.org/10.1016/j.nmd.2017.06.202Test -
53
المؤلفون: Dominique Bozon, Rafaëlle Bernard, Véronique Bonnet, Robert Rousson, Nathalie Bonello, Pierre Labauge, Shahram Attarian, Philippe Latour, Hervé Crehalet, Gilles Millat
المصدر: neurogenetics. 11:13-19
مصطلحات موضوعية: Adult, Male, RNA Splicing, Prp24, Biology, U1 snRNA binding, Cellular and Molecular Neuroscience, Exon, Charcot-Marie-Tooth Disease, RNA, Small Nuclear, Genetics, Humans, snRNP, Genetics (clinical), Polymorphism, Genetic, Splice site mutation, Intracellular Signaling Peptides and Proteins, Intron, Exons, Middle Aged, Phosphoproteins, Molecular biology, Introns, Pedigree, Mutation, RNA splicing, Female, HeLa Cells, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310d956ce88c1a225e5d32d69214c6b4Test
https://doi.org/10.1007/s10048-009-0199-8Test -
54
المؤلفون: Philippe Latour, Philippe Petiot, P.-M. Gonnaud, Emmanuel Broussolle, Christophe Vial, Françoise Bouhour, Nadia Vandenberghe
المصدر: Revue Neurologique. 165:31-37
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Neurology, business.industry, Medicine, Atypical phenotype, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ebbae56c76fd53f79d21b6c02dfe77caTest
https://doi.org/10.1016/j.neurol.2008.06.005Test -
55
المؤلفون: Céline Bonnet, Tarik Hamadouche, Bertrand Degos, Philippe Latour, Andoni Echaniz-Laguna, Nicolas Lévy, Bruno Leheup
المصدر: Neuromuscular Disorders. 17:163-168
مصطلحات موضوعية: Central Nervous System, Male, Pathology, medicine.medical_specialty, Roma, Adolescent, Central nervous system, Cell Cycle Proteins, Disease, Deafness, Audiology, Biology, Clinical knowledge, Polyneuropathies, Tooth disease, Charcot-Marie-Tooth Disease, medicine, Humans, Demyelinating polyneuropathy, Genetics (clinical), Muscle Weakness, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Intracellular Signaling Peptides and Proteins, Brain, Magnetic resonance imaging, DNA, Magnetic Resonance Imaging, Hyperintensity, Pedigree, Electrophysiology, Phenotype, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5f53145e18e1e78dea70b5f6825223Test
https://doi.org/10.1016/j.nmd.2006.10.002Test -
56
المؤلفون: Marie T, Vanier, Philippe, Latour
المصدر: Methods in cell biology. 126
مصطلحات موضوعية: Staining and Labeling, Animals, Humans, Niemann-Pick Disease, Type C, Cholesterol, LDL, Filipin, Biomarkers, Cells, Cultured
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d99d66b8fb8186500faf2d5078b730d6Test
https://pubmed.ncbi.nlm.nih.gov/25665455Test -
57
المؤلفون: Andoni, Echaniz-Laguna, Philippe, Latour
المصدر: Neurology. 83(21)
مصطلحات موضوعية: Male, Phenotype, Mutation, Humans, TRPV Cation Channels, Female, Hereditary Sensory and Autonomic Neuropathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9e2d45ede1b739937c54059b47568cfcTest
https://pubmed.ncbi.nlm.nih.gov/25404646Test -
58
المؤلفون: Philippe Latour, Marie T. Vanier
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Niemann–Pick disease, type C, Cholesterol, Endosome, Biology, medicine.disease, Filipin, Pathogenesis, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Lysosome, Immunology, medicine, lipids (amino acids, peptides, and proteins), NPC1, Late endosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7aa0a4bf73a0c3be0c2aba3fa998e276Test
https://doi.org/10.1016/bs.mcb.2014.10.028Test -
59
المؤلفون: Marc Van Droogenbroeck, Philippe Latour, Benjamin Laugraud
المصدر: Advanced Concepts for Intelligent Vision Systems ISBN: 9783319259024
ACIVSمصطلحات موضوعية: Background subtraction, Motion analysis, Shuffling, Series (mathematics), business.industry, ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION, Process (computing), Context (language use), Segmentation, Computer vision, Artificial intelligence, business, Change detection, Mathematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2d1fb46e4b80dc74046ad6019ee6e0a3Test
https://doi.org/10.1007/978-3-319-25903-1_6Test -
60
المؤلفون: Victor Chan, Claude Stoll, Philippe Latour, François Ziegler, Elisabeth Ollagnon, Serge Perelman, Tanya Stojkovic, Christophe Vial, Antoon Vandenberghe, Pierre-Marie Gonnaud, Irène Maire
المصدر: Journal of the Peripheral Nervous System. 11:148-155
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, Sequence Analysis, Protein, Lysosome, medicine, Humans, Missense mutation, Coding region, Child, Gene, Late endosome, Aged, Genes, Dominant, Retrospective Studies, Family Health, Genetics, Mutation, General Neuroscience, Infant, Nuclear Proteins, Exons, Middle Aged, Pedigree, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation testing, Female, Neurology (clinical), Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d34af2f9a99e1e289ed83775a6598aTest
https://doi.org/10.1111/j.1085-9489.2006.00080.xTest