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1
المؤلفون: Laetitia Boutrand, Antoon Vandenberghe, Philippe Latour, Francine Claustrat, Michel Boucherat, Nicolas Lévy, Guy Chazot, Rafaëlle Bernard, Amandine Boyer
المصدر: Clinical Chemistry. 47:829-837
مصطلحات موضوعية: Genetics, education.field_of_study, Biochemistry (medical), Clinical Biochemistry, Population, Biology, Polymerase Chain Reaction, law.invention, Loss of heterozygosity, Charcot-Marie-Tooth Disease, Tandem Repeat Sequences, law, Genetic marker, Gene Duplication, Genotype, Gene duplication, Humans, Microsatellite, Electrophoresis, Polyacrylamide Gel, education, Myelin Proteins, Polymerase chain reaction, Chromosomes, Human, Pair 17, Southern blot
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d44e961adc57e1ced5991837499170Test
https://doi.org/10.1093/clinchem/47.5.829Test -
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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: Jean-Michel Vallat, Philippe Sindou, Antoon Vandenberghe, E. Lagrange, F. Tabaraud, Nicolas Lévy
المصدر: Muscle & Nerve. 22:1442-1447
مصطلحات موضوعية: education.field_of_study, Pathology, medicine.medical_specialty, Nerve biopsy, medicine.diagnostic_test, Physiology, business.industry, Motor nerve, Disease, medicine.disease, Central nervous system disease, Cellular and Molecular Neuroscience, Electrophysiology, Tooth disease, Degenerative disease, Physiology (medical), medicine, Connexin 32, Neurology (clinical), education, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6276f2b6da5ab0484b5e979e59a9aca3Test
https://doi.org/10.1002Test/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6 -
4
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 -
5
المؤلفون: J.J. Martin, John Hardy, Alison Goate, Martin N. Rossor, C. Van Broeckhoven, A. Hofman, Antoon Vandenberghe, C M van Duijn, Michael Mullan
المصدر: The British journal of psychiatry
Scopus-Elsevierمصطلحات موضوعية: Genetic Markers, Chromosomes, Human, Pair 21, Genetic Linkage, Genetic counseling, Population, Chromosome Disorders, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Risk Factors, Genetic linkage, medicine, Humans, Early-onset Alzheimer's disease, 030212 general & internal medicine, Allele, education, Alleles, Aged, Genes, Dominant, Chromosome Aberrations, Genetics, education.field_of_study, Models, Genetic, Genetic Carrier Screening, Middle Aged, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Allelic heterogeneity, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c70ad08011c348c79b3f8050ef157e93Test
https://doi.org/10.1192/bjp.158.4.471Test -
6
المصدر: Neurology. 52(5)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Pediatrics, X Chromosome, Hearing loss, Genetic Linkage, Nonsense mutation, Electromyography, Neurological disorder, Deafness, Asymptomatic, Connexins, Degenerative disease, Audiometry, Charcot-Marie-Tooth Disease, Medicine, Missense mutation, Humans, education, education.field_of_study, medicine.diagnostic_test, business.industry, medicine.disease, Pedigree, Mutation, Connexin 32, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e36d230154b833bd155309db4fa8f94Test
https://pubmed.ncbi.nlm.nih.gov/10102421Test -
7
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: N Vandenberghe, Guy Chazot, A Gatignol, M Boucherat, M Upadhyaya, L. Boutrand, Antoon Vandenberghe, Philippe Latour
المصدر: Journal of Medical Genetics. 39:81e-81
مصطلحات موضوعية: Male, Early Growth Response Protein 2, DNA Mutational Analysis, Schwann cell, Myelin, Gene Frequency, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Genetics, medicine, Humans, Genetic Testing, education, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Zinc finger, education.field_of_study, biology, Myelin protein zero, Zinc Fingers, Myelin basic protein, DNA-Binding Proteins, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, medicine.anatomical_structure, Mutation, biology.protein, Connexin 32, Female, Online Mutation Report, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065da6edfad46a37cd94ae26179126c1Test
https://doi.org/10.1136/jmg.39.12.e81Test