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1دورية أكاديمية
المؤلفون: Legius E., Messiaen L., Wolkenstein P., Pancza P., Avery R. A., Berman Y., Blakeley J., Babovic-Vuksanovic D., Cunha K. S., Ferner R., Fisher M. J., Friedman J. M., Gutmann D. H., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., Peltonen S., Rauen K. A., Riccardi V., Schorry E., Stemmer-Rachamimov A., Stevenson D. A., Tadini G., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Gomes A., Jordan J. T., Mautner V., Merker V. L., Smith M. J., Stevenson D., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Giovannini M., Halliday D., Hammond C., Hanemann C. O., Hanson H., Heiberg A., Joly P., Kalamarides M., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., MacCollin M., Mallucci C., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Papi L., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Evans D. G., Plotkin S. R.
المساهمون: Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Peltonen, S., Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Gomes, A., Jordan, J. T., Mautner, V., Merker, V. L., Smith, M. J., Stevenson, D., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Giovannini, M., Halliday, D., Hammond, C., Hanemann, C. O., Hanson, H., Heiberg, A., Joly, P., Kalamarides, M., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Maccollin, M., Mallucci, C., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Papi, L., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Evans, D. G., Plotkin, S. R.
مصطلحات موضوعية: Cafe-au-Lait Spot, Consensu, Genetic Testing, Human, Neurofibromatosis 1
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34012067; info:eu-repo/semantics/altIdentifier/wos/WOS:000652090700001; volume:23; issue:8; firstpage:1506; lastpage:1513; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11577/3412674Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106312908
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2
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
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3دورية أكاديمية
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
