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1دورية أكاديمية
المؤلفون: Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard, European Huntington's disease network
المساهمون: Kaelin, André
المصدر: ISSN: 1018-4813 ; European journal of human genetics, vol. 20, no. 1 (2012) p. 20-26.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Alleles, Diagnostic Errors/statistics & numerical data, Genetic Testing/methods/standards, Guidelines as Topic, Humans, Huntington Disease/diagnosis/genetics, International Cooperation, Mutation, Nerve Tissue Proteins/genetics, Nuclear Proteins/genetics, Reference Standards, Reproducibility of Results, Sensitivity and Specificity, Trinucleotide Repeats
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21811303; https://archive-ouverte.unige.ch/unige:30601Test; unige:30601
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المؤلفون: Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Hjermind, Le, Jakobsen, O, Stokholm, J, Hasholt, L, Nørremølle, A, Sørensen, Sa, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Uni, M, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Valeria Russo, C, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K.
المساهمون: Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, DE MICHELE, Giuseppe
المصدر: European Journal of Human Genetics, Vol. 20, No 1 (2012) pp. 20-6
مصطلحات موضوعية: medicine.medical_specialty, Concordance, International Cooperation, Diagnostic Errors/statistics & numerical data, Nerve Tissue Proteins, Guidelines as Topic, Bioinformatics, Sensitivity and Specificity, Article, Huntingtin Gene, Huntington's disease, Trinucleotide Repeats, Internal medicine, External quality assessment, Genetics, medicine, Humans, Nerve Tissue Proteins/genetics, Diagnostic laboratory, Genetic Testing, Genetic Testing/methods/standards, Allele, Diagnostic Errors, standard reference material, Genetics (clinical), Alleles, Huntingtin Protein, ddc:618, business.industry, international cooperation, Nuclear Proteins, Reproducibility of Results, Reference Standards, medicine.disease, CAG repeat length, Nuclear Proteins/genetics, Huntington Disease, Huntington Disease/diagnosis, Mutation, Medical genetics, reproducibility of results, mutation, business, Trinucleotide repeat expansion, Huntington Disease/diagnosis/genetics, Genetic Testing/methods
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889bb5ecc56cde789666947b81c117e5Test
https://archive-ouverte.unige.ch/unige:30601Test -
3دورية أكاديمية
المؤلفون: Elger, Bernice Simone, Harding, Timothy
المصدر: ISSN: 0269-9702 ; Bioethics, vol. 20, no. 3 (2006) p. 158-167.
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, info:eu-repo/classification/ddc/614.1, Adolescent, Attitude, Child, Disclosure/ethics, Genetic Screening/ethics/psychology, Humans, Huntington Disease/diagnosis/genetics, Jurisprudence, Parental Consent, Questionnaires, Students, Medical, Switzerland
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17042112; https://archive-ouverte.unige.ch/unige:1366Test; unige:1366
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4دورية أكاديمية
المصدر: Movement Disorders
مصطلحات موضوعية: Family Health, Humans, Huntington Disease/diagnosis/genetics, Intracellular Signaling Peptides and Proteins, Molecular Diagnostic Techniques/*methods, Nerve Tissue Proteins/*genetics, Oncogene Proteins/genetics, Parkinson Disease/*diagnosis/etiology/*genetics, Protein Deglycase DJ-1, Protein Kinases/genetics, Synucleins, Ubiquitin-Protein Ligases/genetics, alpha-Synuclein
العلاقة: McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina, & Hardy, John (2005) Genetic testing in Parkinson's disease. Movement Disorders, 20(1), pp. 1-10.; https://eprints.qut.edu.au/110202Test/; Faculty of Health; School of Biomedical Sciences
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المؤلفون: Timothy Harding, Bernice Simone Elger
المصدر: Bioethics, Vol. 20, No 3 (2006) pp. 158-67
مصطلحات موضوعية: Genetic Screening/ethics/psychology, Questionnaires, Health (social science), Students, Medical, Adolescent, education, Disclosure, Disease, Huntington's disease, Surveys and Questionnaires, medicine, Humans, Confidentiality, Parental Consent, Genetic Testing, ddc:610, Child, Students, Genetic testing, Jurisprudence, Ethical issues, medicine.diagnostic_test, Health Policy, ddc:614.1, medicine.disease, Disclosure/ethics, Test (assessment), Philosophy, Huntington Disease, Patient autonomy, Attitude, Psychology, Huntington Disease/diagnosis/genetics, Switzerland, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb872f9db88e51ef80caebe1cd8bc47Test
https://archive-ouverte.unige.ch/unige:1366Test