المؤلفون: Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, ROCCHI, Mariano, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg Stern H, Estivill X, Volpini V, Friedl W, Gal A., ARCHIDIACONO, Nicoletta

المساهمون: Nelis, E, Van Broeckhoven, C, De Jonghe, P, Löfgren, A, Vandenberghe, A, Latour, P, Le Guern, E, Brice, A, Mostacciuolo, Ml, Schiavon, F, Palau, F, Bort, S, Upadhyaya, M, Rocchi, Mariano, Archidiacono, Nicoletta, Mandich, P, Bellone, E, Silander, K, Savontaus, Ml, Navon, R, Goldberg Stern, H, Estivill, X, Volpini, V, Friedl, W, Gal, A.

مصطلحات موضوعية: Hereditary Sensory and Motor Neuropathy/genetic, Mutation, Multigene Family

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:A1996UA94000006; volume:4; firstpage:25; lastpage:33; numberofpages:9; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11586/87164Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0029863589; http://www.ncbi.nlm.nih.gov/pubmed/8800924Test

الإتاحة: http://hdl.handle.net/11586/87164Test
http://www.ncbi.nlm.nih.gov/pubmed/8800924Test

المؤلفون: Nelis, E., Broeckhoven, C., Jonghe, P., Lofgren, A., Vandenberghe, A., Latour, P., Le Guern, E., Brice, A., Mostacciuolo, Ml, Schiavon, F., Francesc Palau, Bort, S., Upadhyaya, M., Rocchi, M., Archidiacono, N., Mandich, P., Bellone, E., Silander, K., Savontaus, Ml, Navon, R., Goldberg-Stern, H., Estivill, X., Volpini, V., Friedl, W., Gal, A.

المصدر: European Journal of Human Genetics, 4, 25-33
European Journal of Human Genetics, 4, pp. 25-33
ResearcherID

مصطلحات موضوعية: X Chromosome, Charcot-Marie-Tooth Disease, epidemiology/genetics, Chromosomes, Human, Pair 17, Connexins, genetics, Europe, Gene Deletion, Gene Frequency, Genetic Testing, Hereditary Sensory and Motor Neuropathy, epidemiology/genetics, Humans, Multigene Family, Mutation, Myelin P0 Protein, genetics, Myelin Proteins, genetics, X Chromosome, Clinical description and delineation of genetic syndromes, medicine.disease_cause, Chromosomes, Connexins, Myelin, Onderzoek naar de pathogenese van de hereditaire neuropathieen CMT1a en HNPP, Gene Frequency, Peripheral myelin protein 22, Gene duplication, Genetics, Medicine, Humans, Genetic Testing, education, Klinische beschrijving en moleculaire definiëring van genetische syndromen, Gene, Genetics (clinical), education.field_of_study, Mutation, epidemiology/genetics, business.industry, Pair 17, Myelin protein zero, Chromosome, Europe, medicine.anatomical_structure, Multigene Family, Connexin 32, business, Hereditary Sensory and Motor Neuropathy, Myelin P0 Protein, Pathogenesis of the hereditary neuropathies CMT1a and HNPP, Gene Deletion, Myelin Proteins, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a80561e3ddba758a2d7a4a68899b8ffcTest
http://hdl.handle.net/2066/188335Test

المؤلفون: R. Padoan, Bruno F. Gavassini, Elena Pegoraro, Sara Benedetti, Maurizio Ferrari, Corrado Angelini, Gabriella Zara, I. Menditto, Maria Luisa Mostacciuolo

المساهمون: Pegoraro, E, Gavassini, Bf, Benedetti, S, Menditto, I, Zara, G, Padoan, R, Mostacciuolo, Ml, Ferrari, Maurizio, Angelini, C.

مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Neural Conduction, Biology, medicine.disease_cause, dystrophin gene mutation, LMNA, medicine, Missense mutation, Humans, Muscle, Skeletal, Gene, Genetics (clinical), Aged, Genetics, Myelinopathy, Family Health, Mutation, prenatal diagnosis, Middle Aged, medicine.disease, Lamin Type A, Neurology, Muscular Dystrophies, Limb-Girdle, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Lamin, Myelin Proteins, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6ec757f2f5152d06fed9aecda17969Test