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1دورية أكاديمية
المؤلفون: de la Hoya, M, Soukarieh, O, Lopez-Perolio, I, Vega, A, Walker, LC, van Ierland, Y, Baralle, D, Santamarina, M, Lattimore, V, Wijnen, J, Whiley, P, Blanco, A, Raponi, M, Hauke, J, Wappenschmidt, B, Becker, A, Hansen, TVO, Behar, R, Niederacher, D, Arnold, N, Dworniczak, B, Steinemann, D, Faust, U, Rubinstein, W, Hulick, PJ, Houdayer, C, Caputo, SM, Castera, L, Pesaran, T, Chao, E, Brewer, C, Southey, MC, van Asperen, CJ, Singer, CF, Sullivan, J, Poplawski, N, Mai, P, Peto, J, Johnson, N, Burwinkel, B, Surowy, H, Bojesen, SE, Flyger, H, Lindblom, A, Margolin, S, Chang-Claude, J, Rudolph, A, Radice, P, Galastri, L, Olson, JE, Hallberg, E, Giles, G, Milne, RL, Andrulis, IL, Glendon, G, Hall, P, Czene, K, Blows, F, Shah, M, Wang, Q, Dennis, J, Michailidou, K, McGuffog, L, Bolla, MK, Antoniou, AC, Easton, DF, Couch, FJ, Tavtigian, S, Vreeswijk, MP, Parsons, M, Meeks, HD, Martins, A, Goldgar, DE, Spurdle, AB
المصدر: Human molecular genetics. 25(11):2256-2268
مصطلحات موضوعية: Medicin och hälsovetenskap
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2
المؤلفون: Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica
المصدر: HUMAN MUTATION
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449مصطلحات موضوعية: splicing, AMP classification, quantitation, ACMG/AMP classification, dPCR, ACMG, Medicine and Health Sciences, Genetics, Biology and Life Sciences, BRCA2, Genetics (clinical), functional analysis
وصف الملف: application/pdf
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3دورية أكاديمية
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4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
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10
المؤلفون: Chora, J.R., Iacocca, M., Tichy, L., Wand, H., Kurtz, L.C., Zimmermann, H., Meredith, A.L., Williams, M., Humphries, S.E., Hooper, A.J., Brunham, L., Pereira, A.C., Chen, M., Wang, J., Trinder, M., Jannes, C.E., Chonis, J., Kim, S., Pesaran, T., Johnston, T., Carrie, A., Leigh, S., Hegele, R.A., Sijbrands, E., Freiberger, T., Knowles, J.W., Bourbon, M.
مصطلحات موضوعية: lipids (amino acids, peptides, and proteins), Familial Hypercholesterolemia, Recommendations, LDLR Variant, Doenças Cardio e Cérebro-vasculares
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2016::7dc52557e71150d4b5064cfec2a47da2
https://hdl.handle.net/10400.18/7716