المؤلفون: Mantripragada, K K, Thuresson, A-C, Piotrowski, A, Díaz de Ståhl, T, Menzel, U, Grigelionis, G, Ferner, R E, Griffiths, S, Bolund, L, Mautner, V, Nordling, Margareta, 1962, Legius, E, Vetrie, D, Dahl, N, Messiaen, L, Upadhyaya, M, Bruder, C E G, Dumanski, J P

المصدر: Journal of medical genetics. 43(1):28-38

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 17, genetics, Computational Biology, DNA Mutational Analysis, Gene Deletion, Gene Duplication, Humans, Neurofibromin 1, Oligonucleotide Array Sequence Analysis, Reproducibility of Results

الوصول الحر: https://gup.ub.gu.se/publication/52161Test

المؤلفون: López-Correa, C, Dorschner, M, Brems, Hilde, Lázaro, C, Clementi, M, Upadhyaya, M, Dooijes, D, Moog, U, Kehrer-Sawatzki, H, Rutkowski, J L, Fryns, Jean-Pierre, Marynen, Peter, Stephens, K, Legius, Eric

مصطلحات موضوعية: Alleles, DNA, DNA Mutational Analysis, Family Health, Female, Gene Deletion, Humans, Male, Nerve Tissue Proteins, Neurofibromatosis 1, Neurofibromin 1, Polymerase Chain Reaction, Recombination, Genetic, Research Support, Non-U.S. Gov't, U.S. Gov't, Non-P.H.S, P.H.S

العلاقة: Human Molecular Genetics vol:10 issue:13 pages:1387-1392; https://lirias.kuleuven.be/handle/123456789/9400Test; http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11440991Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/9400Test
http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11440991Test

المؤلفون: Nelis, E., Van Broeckhoven, C., De Jonghe, P., Löfgren, A., Vandenberghe, A., Latour, P., Le Guern, E., Brice, A., Mostacciuolo, M.L., Schiavon, F., Palau, F., Bort, S., Upadhyaya, M., Rocchi, M., Archidiacono, N., Mandich, P., Bellone, E., Silander, K., Savontaus, M.L., Navon, R., Goldberg-Stern, H., Estivill, X., Volpini, V., Friedl, W., Zerres, K., Tyson, J., Malcolm, S., Holmberg, B., Holmgren, G., Mariman, E.C.M., Gabreëls-Festen, A.A.W.M., Yapijakis, C., Vassilopoulos, D., Clark, C., Haites, N., Hilbert, P., Van Maldergem, L., Rautenstrauss, B., Grehl, H., Mountford, R., Mann, K., Bettecken, T., Burgunder, J.M., Hanemann, C.O., Müller, H.W., Hertz, J.M., Schorderet, D.F., Küntzer, T., Wolf, C., Kunert, E., Muntoni, F., Emmerick-Bock, P., Orth, U., Gal, A.

المصدر: European Journal of Human Genetics, vol. 4, no. 1, pp. 25-33

مصطلحات موضوعية: Charcot-Marie-Tooth Disease/epidemiology, Charcot-Marie-Tooth Disease/genetics, Chromosomes, Human, Pair 17, Connexins/genetics, Europe, Gene Deletion, Gene Frequency, Genetic Screening, Hereditary Motor and Sensory Neuropathies/epidemiology, Hereditary Motor and Sensory Neuropathies/genetics, Humans, Multigene Family, Mutation, Myelin P0 Protein/genetics, Myelin Proteins/genetics, X Chromosome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/8800924; info:eu-repo/semantics/altIdentifier/pissn/1018-4813; https://serval.unil.ch/notice/serval:BIB_FD501CFC7141Test

الإتاحة: https://serval.unil.ch/notice/serval:BIB_FD501CFC7141Test

المؤلفون: Patrizia Colapietro, Lidia Larizza, Alessandra Friso, Paola Riva, Angela Bentivegna, Francesca Orzan, Romano Tenconi, L. Corrado, Marco Venturin, Cristina Gervasini, Meena Upadhyaya

المساهمون: Venturin, M, Gervasini, C, Orzan, F, Bentivegna, A, Corrado, L, Colapietro, P, Friso, A, Tenconi, R, Upadhyaya, M, Larizza, L, Riva, P

مصطلحات موضوعية: Neurofibromatosis 1, MED/03 - GENETICA MEDICA, Sequence analysis, Molecular Sequence Data, Non-allelic homologous recombination, Biology, non-homologous end joining, Settore BIO/13 - Biologia Applicata, Genes, Neurofibromatosis 1, Genetics, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, Recombination, Genetic, NF1 microdeletion, Base Sequence, Breakpoint, Physical Chromosome Mapping, Chromosome Breakage, non-allelic homologous recombination, Molecular biology, Non-homologous end joining, Microhomology-mediated end joining, Settore MED/03 - Genetica Medica, Chromosome breakage, Genetic Phenomena, Homologous recombination, Gene Deletion, Chromosomes, Human, Pair 17, Breakpoint junction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad607b694e0772158be6ad0aa86a01bTest
http://hdl.handle.net/10281/12658Test