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1Academic Journal
المؤلفون: Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Alejandra Piñero, Tamara, Pavicic, Walter Hernán, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T., Møller, Pål
مصطلحات موضوعية: MLH1, MSH2, penetrance, cancer incidence, truncating, missense, aberrant splicing, Lynch syndrome, info:eu-repo/classification/ddc/610, ddc:610
Relation: 2856
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2Academic Journal
المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 1 ; ISSN 2324-9269 2324-9269
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3Academic Journal
المؤلفون: Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, Moller, Pål
المساهمون: Tampere University, Clinical Medicine, TAYS Cancer Centre
مصطلحات موضوعية: 3122 Cancers
وصف الملف: fulltext
Relation: 101909; 58; ORCID: /0000-0002-4940-3498/work/133055789; https://trepo.tuni.fi/handle/10024/150138; URN:NBN:fi:tuni-202308097517
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4Academic Journal
المؤلفون: Møller, Pal, Seppälä, Toni T., Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. Gareth, Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Ahadova, Aysel, Monahan, Kevin, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Bajwa-ten Broeke, Sanne W.
المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Biomedical Sciences and Pharmacy
مصطلحات موضوعية: acetylsalicylic acid, DNA mismatch repair protein MSH2, mismatch repair protein PMS2, MutL protein homolog 1, protein MSH6, SDG 3, Sustainable Development Goals
Relation: Hereditary Cancer in Clinical Practice Vol. 21, Issue 1, no. 19; http://hdl.handle.net/1959.13/1495030; uon:53958
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5Academic Journal
المؤلفون: Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauss, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Brunet Vidal, Joan, Kariv, Revital, Rosner, Guy, Alejandra Pinero, Tamara, Laura Gonzalez, Maria, Kalfayan, Pablo, Ryan, Neil, Ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos tot Nederveen, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Buettner, Reinhard, Goergens, Heike, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Jurgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rodland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moeslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., Møller, Pål
المساهمون: ATG - Applied Tumor Genomics, HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, Clinicum, Helsinki University Hospital Area, University of Helsinki
مصطلحات موضوعية: HEREDITARY COLORECTAL-CANCER, ASPIRIN, CAPP2, Biomedicine, General medicine, internal medicine and other clinical medicine
وصف الملف: application/pdf
Relation: The study was supported by a Pink Ribbon grant (194751) from Den Norske Kreftforening to E.H. We express our gratitude to Heikki Jarvinen, Beatrice Alcala-Repo, Teresa Ocana, Maria Pellise, Sabela Carballal, Liseth Rivero, Lorena Moreno, Gerhard Jung, Antoni Castells, Joaquin Cubiella, Laura Rivas, Luis Bujanda, Ines Gil, Jesus Banales, Catalina Garau, Rodrigo Jover, Maria Dolores Pico, Xavier Bessa, Cristina Alvarez, Montserrat Andreu, Carmen Poves, Pedro Perez Segura, Lucia Cid, Marta Carrillo, Enrique Quintero, Angeles Pizarro, Marta Garzon, Adolfo Suarez, Inmaculada Salces, Daniel Rodriguez-Alcalde, Judith Balmana, Adria Lopez, Nuria Duenas, Gemma Llort, Carmen Yague, Teresa Ramon i Cajal, David Fisas Masferrer, Alexandra Gisbert Beamud, Consol Lopez San Martin, Maite Herraiz, Pilar Perez, Cristina Carretero, Maite Betes, Marta Ponce, Elena Aguirre, Nora Alfaro, Carlos Sarroca, and Marianne Haeusler for their efforts over many years. We also thank the Finnish Cancer Foundation, Jane and Aatos Erkko Foundation, Emil Aaltonen Foundation, Finnish Medical Foundation, Instrumentarium Science Foundation, Sigrid Juselius Foundation, and the Norwegian Cancer Society (contract 194751-2017) for funding. D.G.E. and E.J.C. are supported by the all Manchester National Institute for Health Research (NIHR) Biomedical Research Center (IS-BRC-1215-20007) and J.R.S. by Health and Care Research Wales through Wales Gene Park. N.R. was a Medical Research Council Doctoral Research Fellow (MR/M018431/1). Research reported in this publication was supported by the National Cancer Institute (NCI) of the National Institutes of Health (NIH) under award number UM1CA167551 and through cooperative agreements with the following The Colon Cancer Family Registry (CCFR) centers: Australasian Colorectal Cancer Family Registry (NCI/NIH U01 CA074778 and U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (NCI/NIH U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (NCI/NIH U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074794), University of Hawaii Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074806 and R01 CA104132 to L.L.), USC Consortium Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074799). The German Consortium for Familial Intestinal Cancer has been supported by grants from the German Cancer Aid. Data collection from Wales, UK was supported by the Wales Gene Park. This work was cofunded by the European Regional Development Fund (ERDF). M.N. and S.W.t.B were supported by a grant from the Dutch Cancer Society (DCS), grant number UL 2017-8223. G.C., M.P., and J.B.V. were funded by the Spanish Ministry of Economy and Competitiveness and cofunded by FEDER funds (A Way to Build Europe) (grant SAF2015-68016-R), CIBERONC, the Government of Catalonia (grant 2017SGR1282).; Dominguez-Valentin , M , Crosbie , E J , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Thomas , H , Nakken , S , Hovig , E , Nielsen , M , Sijmons , R H , Bertario , L , Bonanni , B , Tibiletti , M G , Cavestro , G M , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , C A , Green , K , Lalloo , F , Hill , J , Schmiegel , W , Vangala , D , Perne , C , Strauss , H-G , Tecklenburg , J , Holinski-Feder , E , Steinke-Lange , V , Mecklin , J-P , Plazzer , J-P , Pineda , M , Navarro , M , Brunet Vidal , J , Kariv , R , Rosner , G , Alejandra Pinero , T , Laura Gonzalez , M , Kalfayan , P , Ryan , N , Ten Broeke , S W , Jenkins , M A , Sunde , L , Bernstein , I , Burn , J , Greenblatt , M , Cappel , W H D V T N , Della Valle , A , Lopez-Koestner , F , Alvarez , K , Buettner , R , Goergens , H , Morak , M , Holzapfel , S , Hueneburg , R , Doeberitz , M V K , Loeffler , M , Rahner , N , Weitz , J , Pylvänäinen , K , Renkonen-Sinisalo , L , Lepistö , A , Auranen , A , Hopper , J L , Win , A K , Haile , R W , Lindor , N M , Gallinger , S , Le Marchand , L , Newcomb , P A , Figueiredo , J C , Thibodeau , S N , Therkildsen , C , Okkels , H , Ketabi , Z , Denton , O G , Rodland , E A , Vasen , H , Neffa , F , Esperon , P , Tjandra , D , Moeslein , G , Sampson , J R , Evans , D G , Seppälä , T T & Møller , P 2021 , ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ' , Genetics In medicine , vol. 23 , no. 4 , pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1; ORCID: /0000-0002-5866-4059/work/127004131; ORCID: /0000-0002-4940-3498/work/127004783; http://hdl.handle.net/10138/353260; 053c901b-4612-4593-9ac3-efc3c63f8439; 000595283200001
الاتاحة: http://hdl.handle.net/10138/353260
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6Academic Journal
المؤلفون: Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
وصف الملف: application/pdf
Relation: https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdf; https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdf; https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf; Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire and Tomlinson, Ian 2023. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair. Nature Communications 14 , 3636. 10.1038/s41467-023-39248-0 https://doi.org/10.1038/s41467-023-39248-0 file https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdffile https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdffile https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf
الاتاحة: https://orca.cardiff.ac.uk/id/eprint/160472/
https://doi.org/10.1038/s41467-023-39248-0
https://orca.cardiff.ac.uk/id/eprint/160472/1/41467_2023_39248_MOESM1_ESM.pdf
https://orca.cardiff.ac.uk/id/eprint/160472/2/41467_2023_Article_39248.pdf
https://orca.cardiff.ac.uk/id/eprint/160472/59/SAMPSON,%2BJULIAN%2B-%2BAuthor%2BCorrection%2BGermline%2Bde%2Bnovo%2Bmutations%2Bin%2Bfamilies%2Bwith%2BMendelian%2Bcancer%2Bsyndromes%2Bcaused%2Bby%2Bdefects%2Bin%2BDNA%2Brepair.pdf.pdf -
7Academic Journal
المؤلفون: Baroutsou, Vasiliki, Duong, Vu, Signorini, Alice, Saccilotto, Ramon, Ciorba, Florina M, Bürki, Nicole, Caiata-Zufferey, Maria, Ryu, Jai Min, Kim, Sung-Won, Lim, Myong Cheol, Monnerat, Christian, Zürrer-Härdi, Ursina, Kim, Jisun, Heinimann, Karl, Graffeo, Rossella, Park, Ji Soo, Rabaglio, Manuela, Chappuis, Pierre Olivier, Kim, Sue, Katapodi, Maria C
المصدر: Baroutsou, Vasiliki; Duong, Vu; Signorini, Alice; Saccilotto, Ramon; Ciorba, Florina M; Bürki, Nicole; Caiata-Zufferey, Maria; Ryu, Jai Min; Kim, Sung-Won; Lim, Myong Cheol; Monnerat, Christian; Zürrer-Härdi, Ursina; Kim, Jisun; Heinimann, Karl; Graffeo, Rossella; Park, Ji Soo; Rabaglio, Manuela; Chappuis, Pierre Olivier; Kim, Sue and Katapodi, Maria C (2023). Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing. Cancers, 15(18) MDPI AG 10.3390/cancers15184485
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
Relation: https://boris.unibe.ch/186772/
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8Academic Journal
المؤلفون: Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
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9Academic Journal
المؤلفون: Møller, Pål, Seppälä, Toni, Dowty, James G, Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J, Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S, Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K, Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J, Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G, Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J, van Hest, Liselotte P, Ricciardiello, Luigi, Kohonen-Corish, Maija R J, Ligtenberg, Marjolijn J L, Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N, Samadder, N Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J, James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L, Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Figueiredo, Jane, Buchanan, Daniel D, Thibodeau, Stephen N, Ten Broeke, Sanne W, Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J, Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R, Jenkins, Mark A
المساهمون: Møller, Pål, Seppälä, Toni, Dowty, James G, Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J, Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, De, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S, Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnu, Loeffler, Marku, Rahner, Nil, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K, Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J, Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G, Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J, van Hest, Liselotte P, Ricciardiello, Luigi, Kohonen-Corish, Maija R J, Ligtenberg, Marjolijn J L, Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N, Samadder, N Jewel
مصطلحات موضوعية: Colonoscopy, Colorectal cancer, Epidemiology, Incidence, Lynch Syndrome, Over-diagnosi, Penetrance, Prevention, Prospective, Segregation analysis
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/36182917; info:eu-repo/semantics/altIdentifier/wos/WOS:000862552700001; volume:20; issue:1; firstpage:1; lastpage:11; numberofpages:11; journal:HEREDITARY CANCER IN CLINICAL PRACTICE; https://hdl.handle.net/11585/916445; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139440044; https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-022-00241-1
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10Academic Journal
Alternate Title: Familial occurrence of colorectal cancer: prevention, aftercare and genetic counseling.
Cancer colorectal familial: dépistage, suivi et conseil en génétique.المؤلفون: Truninger, Kaspar1,2 k.truninger@hin.ch, Heinimann, Karl3,4 karl.heinimann@usb.ch
المصدر: Praxis (16618157). oct2024, Vol. 113 Issue 9, p221-229. 9p.
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11Academic Journal
المؤلفون: Sarki, Mahesh, Ming, Chang, Aissaoui, Souria, Bürki, Nicole, Caiata-Zufferey, Maria, Erlanger, Tobias Ephraim, Graffeo-Galbiati, Rossella, Heinimann, Karl, Heinzelmann-Schwarz, Viola, Monnerat, Christian, Probst-Hensch, Nicole, Rabaglio, Manuela, Zürrer-Härdi, Ursina, Chappuis, Pierre, Katapodi, Maria C, On Behalf Of, The Cascade Consortium
المصدر: ISSN: 2072-6694 ; Cancers, vol. 14, no. 7 (2022) 1636.
مصطلحات موضوعية: info:eu-repo/classification/ddc/616, LASSO, Tier 1 genetic syndromes, Family invitation, Family-based cohort, Public health genetics, Untested relatives
Relation: info:eu-repo/semantics/altIdentifier/pmid/35406409; info:eu-repo/semantics/dataset/url/https://swisscascade.ch/en/research-project-data-request/; https://archive-ouverte.unige.ch/unige:169016; unige:169016
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12Academic Journal
المؤلفون: Salikhanov, Islam, Heinimann, Karl, Chappuis, Pierre, Buerki, Nicole, Graffeo, Rossella, Heinzelmann, Viola, Rabaglio, Manuela, Taborelli, Monica, Wieser, Simon, Katapodi, Maria C
المصدر: ISSN: 0022-2593 ; Journal of medical genetics, vol. 59, no. 9 (2022) p. 924-930.
مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Costs and cost analysis, Gastrointestinal diseases, Genetic counseling, Genetic testing, Health care economics and organizations, Colorectal Neoplasms / diagnosis, Colorectal Neoplasms / epidemiology, Colorectal Neoplasms / genetics, Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis, Hereditary Nonpolyposis / epidemiology, Hereditary Nonpolyposis / genetics, Cost-Benefit Analysis, Early Detection of Cancer, Genetic Testing / methods, Humans, Switzerland / epidemiology
Relation: info:eu-repo/semantics/altIdentifier/pmid/34782441; https://archive-ouverte.unige.ch/unige:169014; unige:169014
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13Academic Journal
المؤلفون: Sarki, Mahesh, Ming, Chang, Aceti, Monica, Fink, Günther, Aissaoui, Souria, Bürki, Nicole, Graffeo, Rossella, Heinimann, Karl, Caiata Zufferey, Maria, Monnerat, Christian, Rabaglio, Manuela, Zürrer-Härdi, Ursina, Chappuis, Pierre O, Katapodi, Maria C
المصدر: Sarki, Mahesh; Ming, Chang; Aceti, Monica; Fink, Günther; Aissaoui, Souria; Bürki, Nicole; Graffeo, Rossella; Heinimann, Karl; Caiata Zufferey, Maria; Monnerat, Christian; Rabaglio, Manuela; Zürrer-Härdi, Ursina; Chappuis, Pierre O; Katapodi, Maria C (2022). Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort. Journal of personalized medicine, 12(10) MDPI 10.3390/jpm12101740
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
Relation: https://boris.unibe.ch/174213/
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14Academic Journal
المؤلفون: Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos Alberto, Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter Hernán, Kalfayan, Pablo, Ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V.O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T., Møller, Pål
المصدر: 2077-0383.
Relation: http://urn.nb.no/URN:NBN:no-95774; Dominguez-Valentin, Mev Plazzer, John-Paul Sampson, Julian R. Engel, Christoph Aretz, Stefan Jenkins, Mark A. Sunde, Lone Bernstein, Inge Capella, Gabriel Balaguer, Francesc Macrae, Finlay Winship, Ingrid M. Thomas, Huw Evans, Dafydd Gareth Burn, John Greenblatt, Marc de Vos tot Nederveen Cappel, Wouter H. Sijmons, Rolf H. Nielsen, Maartje Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria Grazia Cavestro, Giulia Martina Lindblom, Annika Della Valle, Adriana Lopez-Kostner, Francisco Alvarez, Karin Gluck, Nathan Katz, Lior Heinimann, Karl Vaccaro, Carlos Alberto Nakken, Sigve Hovig, Eivind Green, Kate Lalloo, Fiona Hill, James Vasen, Hans F. A. Perne, Claudia Büttner, Reinhard Görgens, Heike Holinski-Feder, Elke Morak, Monika Holzapfel, Stefanie Hüneburg, Robert Doeberitz, Magnus von Knebel Loeffler, Markus Rahner, Nils Weitz, Jürgen Steinke-Lange, Verena Schmiegel, Wolff Vangala, Deepak Crosbie, Emma J. Pineda, Marta Navarro, Matilde Brunet, Joan Moreira, Leticia Sánchez, Ariadna Serra-Burriel, Miquel Mints, Miriam Kariv, Revital Rosner, Guy Piñero, Tamara A. Pavicic, Walter Hernán Kalfayan, Pablo Ten Broeke, Sanne W. Mecklin, Jukka-Pekka Pylvänäinen, Kirsi Renkonen-Sinisalo, Laura Lepistö, Anna Peltomäki, Päivi Hopper, John L. Win, Aung Ko Buchanan, Daniel D. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loic Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Hansen, Thomas V.O. Lindberg, Lars Rødland, Einar Andreas Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Seppälä, Toni T. Møller, Pål . No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study. Journal of Clinical Medicine. 2021, 10(13), 1-12; http://hdl.handle.net/10852/93181; 2004646; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal of Clinical Medicine&rft.volume=10&rft.spage=1&rft.date=2021; Journal of Clinical Medicine; 10; 13; https://doi.org/10.3390/jcm10132856; URN:NBN:no-95774; Fulltext https://www.duo.uio.no/bitstream/handle/10852/93181/1/No%2Bdifference%2Bin%2Bpenetrance%2Bbetween%2Btruncating%2Band%2Bmissense%2Baberrant%2Bsplicing%2Bpathogenic%2Bvariants%2Bin%2Bmlh1%2Band%2Bmsh2%2BA%2Bprospective%2Blynch%2Bsyndrome%2Bdatabase%2Bstudy.pdf
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15Academic Journal
المؤلفون: Koster, Kira-Lee, Rothermundt, Christian, Binet, Isabelle, Borovicka, Jan, Bozinov, Oliver, Clerici, Thomas, Engeler, Daniel S., Greiner, Jeanette, Hader, Claudia, Heinimann, Karl, Azzarello-Burri, Silvia, Lang, Corina, Krull, Ina, Stckli, Sandro J., Omlin, Aurelius, Hundsberger, Thomas
المصدر: Forum Médical Suisse ‒ Swiss Medical Forum ; ISSN 1661-6146
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16Academic Journal
المؤلفون: Koster, Kira-Lee, Rothermundt, Christian, Binet, Isabelle, Borovicka, Jan, Bozinov, Oliver, Clerici, Thomas, Engeler, Daniel S., Greiner, Jeanette, Hader, Claudia, Heinimann, Karl, Azzarello-Burri, Silvia, Lang, Corina, Krull, Ina, Stckli, Sandro J., Omlin, Aurelius, Hundsberger, Thomas
المصدر: Swiss Medical Forum ‒ Schweizerisches Medizin-Forum ; ISSN 1424-4020
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17Academic Journal
المؤلفون: Møller, Pal, Seppälä, Toni T., Ahadova, Aysel, Crosbie, Emma J., Holinski-Feder, Elke, Scott, Rodney, Haupt, Saskia, Möslein, Gabriela, Winship, Ingrid, Broeke, Sanne W. B., Kohut, Kelly E., Ryan, Neil, Bauerfeind, Peter, Thomas, Laura E., Evans, D. G., Aretz, Stefan, Sijmons, Rolf H., Half, Elizabeth, Heinimann, Karl, Horisberger, Karoline, Monahan, Kevin, Engel, Christoph, Cavestro, Giulia M., Fruscio, Robert, Abu-Freha, Naim, Zohar, Levi, Laghi, Luigi, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Lino-Silva, Leonardo S., Vaccaro, Carlos, Valle, Adriana D., Rossi, Benedito M., da Silva, Leandro A., de Oliveira Nascimento, Ivana L., Rossi, Norma T., Dębniak, Tadeusz, Mecklin, Jukka-Pekka, Bernstein, Inge, Lindblom, Annika, Sunde, Lone, Nakken, Sigve, Heuveline, Vincent, Burn, John, Hovig, Eivind, Kloor, Matthias, Sampson, Julian R., Dominguez-Valentin, Mev
وصف الملف: application/pdf
Relation: Hereditary Cancer in Clinical Practice. 2023 Oct 11;21(1):19; http://hdl.handle.net/10138/580027
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18Academic Journal
المؤلفون: Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D Gareth, Genuardi, Maurizio, Hes, Frederik J, Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R, Heinimann, Karl
المساهمون: Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D Gareth, Genuardi, Maurizio, Hes, Frederik J, Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Han, Latchford, Andrew R, Heinimann, Karl
مصطلحات موضوعية: colorectal cancer, genotype–phenotype correlation, hereditary hemorrhagic telangiectasia, juvenile polyposis syndrome, polyposis
Relation: info:eu-repo/semantics/altIdentifier/pmid/32398773; info:eu-repo/semantics/altIdentifier/wos/WOS:000532091600001; firstpage:1524; lastpage:1532; numberofpages:9; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11586/285653
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19Academic Journal
المؤلفون: Seppälä, Toni T, Dominguez-Valentin, Mev, Crosbie, Emma J, Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G, Cavestro, Giulia M, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A, Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vida, Joan B, Kariv, Revital, Rosner, Guy, Piñero, Tamara A, Pavicic, Walter, Kalfayan, Pablo, Ten Broeke, Sanne W, Jenkins, Mark A, Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos Tot Nederveen Cappel, Wouter H, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L, Win, Aung K, Lindor, Noralane M, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Figueiredo, Jane C, Thibodeau, Stephen N, Therkildsen, Christina, Wadt, Karin A W, Mourits, Marian J E, Ketabi, Zohreh, Denton, Oliver G, Rødland, Einar A, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R, Evans, D G, Møller, Pål
المصدر: Seppälä , T T , Dominguez-Valentin , M , Crosbie , E J , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Hovig , E , Nielsen , M , Sijmons , R H , Bertario , L , Bonanni , B , Tibiletti , M G , Cavestro , G M , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , C A , Green , K , Lalloo , F , Hill , J , Schmiegel ....
مصطلحات موضوعية: Adult, Aged, Biomarkers, Tumor/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Cross-Sectional Studies, DNA Mismatch Repair, Databases, Factual, Female, Follow-Up Studies, Genital Neoplasms, Female/prevention & control, Heterozygote, Humans, Hysterectomy/methods, Middle Aged, Mutation, Prognosis, Prospective Studies, Salpingo-oophorectomy/methods, ResearchInstitutes_Networks_Beacons/mcrc, name=Manchester Cancer Research Centre
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20Academic Journal
المؤلفون: Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauss, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Brunet Vidal, Joan, Kariv, Revital, Rosner, Guy, Alejandra Pinero, Tamara, Laura Gonzalez, Maria, Kalfayan, Pablo, Ryan, Neil, Ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos tot Nederveen, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Buettner, Reinhard, Goergens, Heike, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Jurgen, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rodland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moeslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppala, Toni T., Moller, Pal
المصدر: Dominguez-Valentin , M , Crosbie , E J , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Thomas , H , Nakken , S , Hovig , E , Nielsen , M , Sijmons , R H , Bertario , L , Bonanni , B , Tibiletti , M G , Cavestro , G M , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , C A , Green , K , Lalloo , F , Hill , ....
مصطلحات موضوعية: HEREDITARY COLORECTAL-CANCER, ASPIRIN, CAPP2
وصف الملف: application/pdf