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31دورية أكاديمية
مصطلحات موضوعية: Articles
وصف الملف: text/html
العلاقة: http://nar.oxfordjournals.org/cgi/content/short/16/6/2738Test; http://dx.doi.org/10.1093/nar/16.6.2738Test
الإتاحة: https://doi.org/10.1093/nar/16.6.2738Test
http://nar.oxfordjournals.org/cgi/content/short/16/6/2738Test -
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المؤلفون: S. Tardieu, Nicholas W. Wood, Pierre Bouche, Eric LeGuern, Antoon Vandenberghe, Nicolas Lévy, Philippe Latour, Nobutada Tachi, Judith Lopes, Alexis Brice, Ionasescu
المصدر: Nature genetics. 17(2)
مصطلحات موضوعية: Genetics, Gene Rearrangement, Male, Sex Characteristics, Gene rearrangement, Biology, Chromosomal crossover, Pedigree, Charcot-Marie-Tooth Disease, Multigene Family, Humans, Female, Crossing Over, Genetic, Chromosome Deletion, Hereditary Sensory and Motor Neuropathy, Recombination, Sex characteristics, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff32bd2e78b201b98c8fde6742cb2a1dTest
https://pubmed.ncbi.nlm.nih.gov/9326925Test -
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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 -
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المؤلفون: Philippe Latour, Antoon Vandenberghe, André Dautigny, Emmanuel Corbillon, Jacques Battin, Catherine Ressot, Elizabeth Ollagnon, Françoise Serville, Franck Sturtz, Sylvie Duthel, Danielle Pham-Dinh, Françoise Blanquet-Grossard
المصدر: Human genetics. 98(2)
مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Nonsense mutation, Biology, medicine.disease_cause, Diagnostic tools, Polymerase Chain Reaction, Connexins, Charcot-Marie-Tooth Disease, Genetics, medicine, Missense mutation, Coding region, Humans, Point Mutation, Amino Acid Sequence, Codon, Gene, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Genes, Dominant, Mutation, Base Sequence, DNA, Human genetics, Pedigree, Codon, Nonsense, Female, X-linked dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59acb3d7f6ed0dd25dc93ed4a2594848Test
https://pubmed.ncbi.nlm.nih.gov/8698335Test -
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المؤلفون: C. Vial, Antoon Vandenberghe, J. M. Warter, C. Bonnebouche, Pierre-Marie Gonnaud, B. Bady, A. S. Brechard, V. Fourbil, C. Tranchant, Guy Chazot, Franck Sturtz
المصدر: Acta neurologica Scandinavica. 92(4)
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Genotype, Asymptomatic, Paralysis, medicine, Humans, Point Mutation, Allele, Genotyping, Alleles, Ulnar Nerve, Palsy, business.industry, Point mutation, Peroneal Nerve, General Medicine, DNA, Middle Aged, medicine.disease, Dermatology, Median Nerve, Neurology, Mutagenesis, Female, Neurology (clinical), medicine.symptom, Chromosome Deletion, Tibial Nerve, business, Hereditary Sensory and Motor Neuropathy, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba75f66a17e7081c34a569f73ae7c6cbTest
https://pubmed.ncbi.nlm.nih.gov/8848937Test -
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المؤلفون: Christine Bonnebouche, P Diraison, Eva Nelis, Christine Van Broeckhoven, Danielle Pham-Dinh, Michel Boucherat, Françoise Blanquet, Antoon Vandenberghe, Guy Chazot, André Dautigny, Fraņoise Chapon, Philippe Latour, Elisabeth Ollagnon
المصدر: Human mutation
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Base Sequence, Point mutation, Myelin protein zero, DNA Mutational Analysis, Molecular Sequence Data, Chromosome, Biology, medicine.disease_cause, nervous system diseases, Charcot-Marie-Tooth Disease Type 1B, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, medicine, Humans, Point Mutation, Gene, Myelin P0 Protein, Genetics (clinical), Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f8df2840742d190b36bca036dfb86eTest
https://pubmed.ncbi.nlm.nih.gov/7550231Test -
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المؤلفون: Antoon Vandenberghe, Eva Nelis, André Dautigny, Christine Van Broeckhoven, Jean-Jacques Martin, Peter De Jonghe, Vincent Timmerman, Danielle Pham-Dinh
المصدر: Human genetics
مصطلحات موضوعية: Silent mutation, Genetics, Polymorphism, Genetic, Base Sequence, Myelin protein zero, Nonsense mutation, Molecular Sequence Data, Biology, Molecular biology, Exon, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, Mutation, Missense mutation, Humans, Human medicine, Gene, Myelin P0 Protein, Genetics (clinical), Myelin Proteins, Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fbbc8991b147fbb2cd9e5c697b6b7aTest
https://pubmed.ncbi.nlm.nih.gov/7527371Test -
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المؤلفون: Pierre Cochat, Claude Dupont, Christine Bonnebouche, Antoon Vandenberghe, Pierre-Marie Gonnaud, Guy Chazot, Muriel Bost, Brigitte Gilbert
المصدر: Clinical genetics. 46(5)
مصطلحات موضوعية: Genetics, Genetic Markers, Male, Biology, medicine.disease, Pedigree, Central nervous system disease, Degenerative disease, Gene Frequency, Genetic marker, Charcot-Marie-Tooth Disease, Multigene Family, Gene duplication, medicine, Humans, Female, Allele, Molecular probe, DNA Probes, Genetics (clinical), Alleles, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d2e9d81a51fb610e4c25c2f74c85a2Test
https://pubmed.ncbi.nlm.nih.gov/7889651Test -
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المؤلفون: Antoon Vandenberghe, Franck Sturtz, Guy Chazot
المصدر: Journal of the history of the neurosciences. 1(1)
مصطلحات موضوعية: medicine.medical_specialty, Neurology, medicine.diagnostic_test, business.industry, General Neuroscience, Genetic Diseases, Inborn, History, 19th Century, Disease, Current period, Electromyography, History, 20th Century, medicine.disease, United Kingdom, Tooth disease, History and Philosophy of Science, Charcot-Marie-Tooth Disease, medicine, Humans, Neurology (clinical), France, Hereditary motor and sensory neuropathy, business, Pathological, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02707d0e736c7ea4b34984281858080Test
https://pubmed.ncbi.nlm.nih.gov/11618415Test -
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المؤلفون: C. Van Broeckhoven, Antoon Vandenberghe, G. Van Camp
المصدر: Human genetics
مصطلحات موضوعية: Genetics, Chromosomes, Human, Pair 21, Hybridization probe, Locus (genetics), Biology, Cosmids, Human genetics, Deoxyribonuclease HpaII, Blotting, Southern, Gene mapping, Gene Frequency, Alzheimer Disease, Cosmid, Humans, Human medicine, Restriction fragment length polymorphism, Allele, DNA Probes, Deoxyribonucleases, Type II Site-Specific, Allele frequency, Genetics (clinical), Alleles, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561e52fc94388ce1cae22d07625f74a9Test
https://pubmed.ncbi.nlm.nih.gov/1694162Test