يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Upadhyaya M."', وقت الاستعلام: 1.64s تنقيح النتائج
  1. 1
    Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.

    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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  2. 2
    دورية أكاديمية
    Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

    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

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