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11
المؤلفون: Ahmed Bouhouche, Mohamed Yahyaoui, T. Chkili, Antoon Vandenberghe, Nazha Birouk, Angélique Mularoni, Djamal Grid, Johann Tassin, Ali Benomar, Alexis Brice, Eric LeGuern, Farid Meggouh
المساهمون: Other departments
المصدر: American journal of human genetics, 65(3), 722-727. Cell Press
مصطلحات موضوعية: Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Locus (genetics), Genes, Recessive, Genetic mapping, Consanguinity, Biology, Charcot-Marie-Tooth disease, P0 gene, Genetic determinism, Gene mapping, Autosomal recessive form, Genetics, Humans, Genetics(clinical), Age of Onset, Child, Chromosomes, Artificial, Yeast, Genetics (clinical), Recombination, Genetic, Haplotype, Homozygote, Axonal form, Chromosome, Chromosome Mapping, Middle Aged, Axons, Pedigree, Morocco, Haplotypes, Genetic marker, Chromosomes, Human, Pair 1, Chromosome 1q21.2-q21.3, Female, Age of onset, Lod Score, Myelin P0 Protein, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28df11cb04624edf0cbea80cff137fbaTest
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12
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 -
13
المؤلفون: Christine Bonnebouche, Antoon Vandenberghe, Emmanuel Corbillon, Danielle Pham-Dinh, André Dautigny, Philippe Latour, Françoise Blanquet-Grossard, Guy Chazot
المصدر: Clinical Genetics. 48:281-283
مصطلحات موضوعية: chemistry.chemical_classification, Silent mutation, Genetics, Mutation, Point mutation, Biology, medicine.disease_cause, Amino acid, Serine, Exon, Myelin, medicine.anatomical_structure, chemistry, medicine, Missense mutation, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::621880a2ca6f4b1e2d7ae11f66ba41ccTest
https://doi.org/10.1111/j.1399-0004.1995.tb04109.xTest -
14
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 -
15
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 -
16
المؤلفون: Franck Sturtz, Guy Chazot, Antoon Vandenberghe, Cruz S, Mabin D, Philippe Latour, Mocquard Y, Fenoll B, LeFur Jm
المصدر: European Neurology. 38:26-30
مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Neural Conduction, Motor nerve, Biology, Nerve conduction velocity, Central nervous system disease, Degenerative disease, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Age of Onset, Child, Genetics, Homozygote, Heterozygote advantage, DNA, Anatomy, medicine.disease, Phenotype, Pedigree, Electrophysiology, Chromosome 17 (human), Scoliosis, Neurology, Multigene Family, Female, Neurology (clinical), Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f900f9fac1443a26c257bec7be0d45bTest
https://doi.org/10.1159/000112898Test -
17
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 -
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المؤلفون: C. Bonnebouche, B. Bady, Guy Chazot, F. Chauvin, M. Bost, Philippe Latour, Franck Sturtz, E. Ollagnon-Roman, Antoon Vandenberghe, Pierre-Marie Gonnaud
المصدر: European Neurology. 36:224-228
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Motor nerve conduction velocity, Motor nerve, Anatomy, medicine.disease, Median nerve, Central nervous system disease, Chromosome 17 (human), Degenerative disease, Neurology, Peripheral nerve, Gene duplication, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b4e889ac538f3b0fa8795145d82d18fTest
https://doi.org/10.1159/000117254Test -
19
المؤلفون: J.L Besse, Pierre-Marie Gonnaud, G. Chazot, Franck Sturtz, Antoon Vandenberghe
المصدر: Archives de Pédiatrie. 2:70-78
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Disease, medicine.disease, Muscle hypertrophy, Chromosome 17 (human), Central nervous system disease, Degenerative disease, Pediatrics, Perinatology and Child Health, medicine, Abnormality, business, Hereditary motor and sensory neuropathy, Pathological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c2f16676a97e3bffbb9361ab0dc2999bTest
https://doi.org/10.1016/0929-693xTest(96)89813-7 -
20
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