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1
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: Françoise Chapon, Antoon Vandenberghe, Philippe Latour, Christine Bonnebouche, P Diraison, Françoise Blanquet-Grossard, André Dautigny, Danielle Pham-Dinh, Guy Chazot
المصدر: Human Mutation. 8:185-186
مصطلحات موضوعية: chemistry.chemical_classification, chemistry.chemical_compound, Glycosylation, chemistry, Peripheral myelin, Mutation (genetic algorithm), Genetics, Biology, Glycoprotein, Molecular biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::000d73af3151426450e94a5cffa67d15Test
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:2<185::aid-humu13>3.0.co;2-z -
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المؤلفون: Françoise Blanquet‐Grossard, Danielle Pham‐Dinh, André Dautigny, Philippe Latour, Christine Bonnebouche, Philippe Diraison, Françoise Chapon, Guy Chazot, Antoon Vandenberghe
المصدر: Human Mutation. 8:185-186
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75c073aeeef2d1989475aa1f7ed28ad4Test
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:2<185::aid-humu13>3.3.co;2-3 -
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المؤلفون: Antoon Vandenberghe, Konecny Lara, Philippe Latour, Boutrand Laetitia, Roger Besançon, Geneviève Chamba, Angélique Mularoni
المصدر: Human Mutation. 17:237-237
مصطلحات موضوعية: Genetics, business.industry, Single-nucleotide polymorphism, PMP2, Biology, medicine.disease, Peripheral myelin protein, Peripheral neuropathy, Text mining, medicine, SNP, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b025036a1aa4ddf7caa881435276c5daTest
https://doi.org/10.1002/humu.11Test -
5
المؤلفون: Feza Deymeer, Nisrine Bissar-Tadmouri, Yesim Gulsen-Parman, Piraye Serdaroglu, Esra Battaloglu, Antoon Vandenberghe, Philippe Latour
المصدر: Human Mutation. 14:449-449
مصطلحات موضوعية: Adult, Male, Turkey, Turkish, Molecular Sequence Data, Mutation, Missense, Biology, Type (biology), Charcot-Marie-Tooth Disease, Genetics, Humans, Point Mutation, Coding region, Amino Acid Sequence, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Base Sequence, Myelin protein zero, Sequence Analysis, DNA, Middle Aged, language.human_language, Mutagenesis, Insertional, Amino Acid Substitution, Chromosomes, Human, Pair 1, language, Female, Chromosome Deletion, Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb128b405745999000445f2d279c49aTest
https://doi.org/10.1002Test/(sici)1098-1004(199911)14:5<449::aid-humu17>3.0.co;2-h -
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المؤلفون: Alberta Lorenzi, Franck Sturtz, Antoon Vandenberghe, Roger Besançon, Christine Van Broeckhoven, Emmanuel Broussolle, Guy Chazot, Geneviève Chamba, Sandrine Radawiec, Marc Cruts
المصدر: Human Mutation. 11:481-481
مصطلحات موضوعية: Genetics, Exon, Transmission (medicine), medicine, Missense mutation, Early-onset Alzheimer's disease, Biology, medicine.disease, Genetics (clinical), Presenilin 1 Gene, Allele specific
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e3cc1b9c5c4d4d30e9799eaa38a8cb1Test
https://doi.org/10.1002Test/(sici)1098-1004(1998)11:6<481::aid-humu13>3.0.co;2-n