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1
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 -
2
المؤلفون: Nisrine Bissar-Tadmouri, Piraye Serdaroglu, Yesim Parman, L Boutrand, Feza Deymeer, Antoon Vandenberghe, Esra Battaloglu
المصدر: Clinical Genetics. 58:396-402
مصطلحات موضوعية: Genetics, education.field_of_study, Myelin protein zero, Point mutation, Locus (genetics), Biology, Frameshift mutation, Genotype, Gene duplication, Connexin 32, education, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cdea0c3e5853b6b95298dd650606b876Test
https://doi.org/10.1034/j.1399-0004.2000.580511.xTest -
3
المؤلفون: Antoon Vandenberghe, Alain Lachaux, Michèle Accominotti, Muriel Bost
المصدر: The Journal of Trace Elements in Experimental Medicine. 12:321-329
مصطلحات موضوعية: Genetics, Haplotype, Locus (genetics), Single-strand conformation polymorphism, Biology, Chronic liver disease, medicine.disease, Biochemistry, Molecular biology, Exon, medicine, Polymorphic Microsatellite Marker, Missense mutation, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbea9b145fe06a82288d44a923ccb6a2Test
https://doi.org/10.1002Test/(sici)1520-670x(1999)12:4<321::aid-jtra5>3.0.co;2-y -
4
المؤلفون: Merle Ruberg, Alexis Brice, N. Ravisé, Victor Ionasescu, Michelle Mayer, Nobutada Tachi, Philippe Latour, Antoon Vandenberghe, Francisco Palau, Nicholas W. Wood, Pierre Bouche, Judith Lopes, Eric LeGuern, Nicolas Lévy
المصدر: Human Molecular Genetics. 7:141-148
مصطلحات موضوعية: Genetics, Breakpoint, General Medicine, Gene rearrangement, Biology, Chromosome 17 (human), Meiosis, Gene mapping, Gene duplication, Homologous recombination, Molecular Biology, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b45cccff9890b350e6ddc476abaf17e0Test
https://doi.org/10.1093/hmg/7.1.141Test -
5
المؤلفون: P Clavelou, M Paret, Elisabeth Ollagnon, Nicolas Lévy, R Dumas, A Setiey, Antoon Vandenberghe, Guy Chazot, P Couratier, Michel Fontes, Françoise Chapon, M Boucherat, Jean-Michel Vallat, Jean Pouget, Philippe Latour
المصدر: neurogenetics. 1:117-123
مصطلحات موضوعية: Adult, Male, X Chromosome, Adolescent, Genetic Linkage, DNA Mutational Analysis, Population, Biology, medicine.disease_cause, Connexins, Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Genetic linkage, Genetics, medicine, Humans, Point Mutation, Child, education, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Aged, Sequence Deletion, Family Health, education.field_of_study, Mutation, Point mutation, Single-strand conformation polymorphism, DNA, Middle Aged, Human genetics, Median Nerve, Pedigree, Amino Acid Substitution, CpG site, Female, France, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45258c3a582d309c819502dd4d64cd70Test
https://doi.org/10.1007/s100480050017Test -
6
المؤلفون: G Chauplannaz, R Dumas, Michel Boucherat, Jean Pouget, A Laguenay, Antoon Vandenberghe, Guy Chazot, Philippe Latour, M. Bost, S. Duthel, Elisabeth Ollagnon, Françoise Chapon
المصدر: Clinical Chemistry. 42:1021-1025
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, biology, Biochemistry (medical), Clinical Biochemistry, Breakpoint, EcoRI, medicine.disease_cause, Chromosome 17 (human), Gene duplication, biology.protein, medicine, Restriction fragment length polymorphism, Repeated sequence, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::341f4d5b7f7a6a752a5add1649f93cddTest
https://doi.org/10.1093/clinchem/42.7.1021Test -
7
المؤلفون: Nathalie Roeckel, Blanquet F, André Dautigny, Marie Geneviève Mattei, Philippe Latour, Guy Chazot, Danielle Pham-Dinh, Antoon Vandenberghe, Fourbil Y
المصدر: Human Molecular Genetics. 2:2051-2054
مصطلحات موضوعية: Yeast artificial chromosome, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Cell Adhesion Molecules, Neuronal, Molecular Sequence Data, Restriction Mapping, Biology, Polymerase Chain Reaction, Myelin, Gene mapping, Charcot-Marie-Tooth Disease, Gene cluster, Leukocytes, Genetics, medicine, Humans, Amino Acid Sequence, Receptor, Chromosomes, Artificial, Yeast, Molecular Biology, Gene, Genetics (clinical), DNA Primers, Polymorphism, Genetic, Base Sequence, Genes, Immunoglobulin, Receptors, IgG, Nucleic acid sequence, Chromosome Mapping, Chromosome, Exons, General Medicine, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Immunoglobulin G, Multigene Family, Myelin P0 Protein, Myelin Proteins, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580850ffeeaf36639f3e3c0f999dfb92Test
https://doi.org/10.1093/hmg/2.12.2051Test -
8
المؤلفون: Laurette Morlé, Antoon Vandenberghe, Lionel Collet, Patrick Edery, Muriel Bozon, Jacqueline Godet, Philippe Latour, Nicole Alloisio, Henri Plauchu, Geneviève Lina-Granade
المصدر: Journal of Medical Genetics. 37:368-370
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Hearing loss, Short Report, Connexin, Deafness, Biology, medicine.disease_cause, Connexins, Genetic determinism, Pathogenesis, Loss of heterozygosity, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Genes, Dominant, Mutation, Middle Aged, Pedigree, Connexin 26, Transmembrane domain, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e2064ea35f3764e238f959d633770dTest
https://doi.org/10.1136/jmg.37.5.368Test -
9
المؤلفون: Jean-Jacques Hauw, Jean-Michel Vallat, Françoise Chapon, Thierry Maisonobe, Juan-José Archelos, Kyle G. Braund, F. Tabaraud, Philippe Sindou, Thierry Anani, Antoon Vandenberghe
المساهمون: Department of Neurology, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, Franc, Department of Neurology, University Hospital, Caen, France, Department of Neurology and Multiple Sclerosis Research Group,Julius-Maximilians-Universita ̈t, Wu ̈ rzburg, Germany, Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn, Alabama, USA, Service de Neurophysiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Académie nationale de médecine, Department of Molecular Neurogenetics, Claude Bernard University, Lyon I, France
المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 1999, 22 (1), pp.99-104. ⟨10.1002/(SICI)1097-4598(199901)22:13.0.CO;2-5⟩مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Mutation, Physiology, Point mutation, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, medicine.disease_cause, Phenotype, Cellular and Molecular Neuroscience, Exon, Myelin, medicine.anatomical_structure, Compact myelin, Physiology (medical), Gene expression, medicine, Neurology (clinical), Gene, ComputingMilieux_MISCELLANEOUS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3f54e8f4e7a8484bb72e58656a5779Test
https://hal.archives-ouvertes.fr/hal-02504135Test -
10
المؤلفون: Jean-Christophe Antoine, Emmanuel Corbillon, Franck Sturtz, Françoise Chapon, Philippe Latour, Patrick Calvas, Anne Fabreguette, Antoon Vandenberghe, Guy Chazot, Danielle Pham-Dinh, André Dautigny, Catherine Ressot, Michel Boucherat, Françoise Blanquet-Grossard, Elisabeth Ollagnon
المصدر: European neurology. 37(1)
مصطلحات موضوعية: Male, X Chromosome, DNA Mutational Analysis, X-linked form, Biology, Polymerase Chain Reaction, Connexins, Degenerative disease, Charcot-Marie-Tooth Disease, medicine, Missense mutation, Humans, education, Gene, X chromosome, Polymorphism, Single-Stranded Conformational, Sex Chromosome Aberrations, Genetics, education.field_of_study, Chromosome, medicine.disease, Pedigree, Transmembrane domain, Neurology, Connexin 32, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac10de2b841de7b482e739be77109be0Test
https://pubmed.ncbi.nlm.nih.gov/9018031Test