Výsledky vyhledávání - Guidugli, Lucia
- Zobrazuji výsledky 1 - 20 z 20
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A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) Autor Lindor, Noralane M., Guidugli, Lucia, Wang, Xianshu, Vallée, Maxime P., Monteiro, Alvaro N.A., Tavtigian, Sean, Goldgar, David E., Couch, Fergus J.
Vydáno 2011Text -
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings Autor Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, Daniela
Vydáno 2015Text -
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Functional assays for analysis of variants of uncertain significance in BRCA2 Autor Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.
Vydáno 2013Text -
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing Autor Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei
Vydáno 2018Text -
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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches Autor Guidugli, Lucia, Shimelis, Hermela, Masica, David L., Pankratz, Vernon S., Lipton, Gary B., Singh, Namit, Hu, Chunling, Monteiro, Alvaro N.A., Lindor, Noralane M., Goldgar, David E., Karchin, Rachel, Iversen, Edwin S., Couch, Fergus J.
Vydáno 2018Text -
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A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity Autor Guidugli, Lucia, Pankratz, V. Shane, Singh, Namit, Thompson, James, Erding, Catherine A, Engel, Christoph, Schmutzler, Rita, Domchek, Susan, Nathanson, Katherine, Radice, Paolo, Singer, Christian, Tonin, Patricia N., Lindor, Noralane M., Goldgar, David E., Couch, Fergus J.
Vydáno 2012Text -
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Splicing and Multifactorial Analysis of Intronic BRCA1 and BRCA2 Sequence Variants Identifies Clinically Significant Splicing Aberrations up to 12 Nucleotides from the Intron/Exon... Autor Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J., Spurdle1, Amanda B.
Vydáno 2011Text -
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Exome sequencing and targeted analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes Autor Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Waggoner, Darrel J., Gomez, Christopher M., Das, Soma
Vydáno 2018Text -
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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer Autor Maxwell, Kara N., Hart, Steven N., Vijai, Joseph, Schrader, Kasmintan A., Slavin, Thomas P., Thomas, Tinu, Wubbenhorst, Bradley, Ravichandran, Vignesh, Moore, Raymond M., Hu, Chunling, Guidugli, Lucia, Wenz, Brandon, Domchek, Susan M., Robson, Mark E., Szabo, Csilla, Neuhausen, Susan L., Weitzel, Jeffrey N., Offit, Kenneth, Couch, Fergus J., Nathanson, Katherine L.
Vydáno 2016Text -
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Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases Autor De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.
Vydáno 2021Text -
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk Autor Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, kConFab, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E
Vydáno 2012Text -
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Inherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast Cancer Autor Couch, Fergus J., Hart, Steven N., Sharma, Priyanka, Toland, Amanda Ewart, Wang, Xianshu, Miron, Penelope, Olson, Janet E., Godwin, Andrew K., Pankratz, V. Shane, Olswold, Curtis, Slettedahl, Seth, Hallberg, Emily, Guidugli, Lucia, Davila, Jaime I., Beckmann, Matthias W., Janni, Wolfgang, Rack, Brigitte, Ekici, Arif B., Slamon, Dennis J., Konstantopoulou, Irene, Fostira, Florentia, Vratimos, Athanassios, Fountzilas, George, Pelttari, Liisa M., Tapper, William J., Durcan, Lorraine, Cross, Simon S., Pilarski, Robert, Shapiro, Charles L., Klemp, Jennifer, Yao, Song, Garber, Judy, Cox, Angela, Brauch, Hiltrud, Ambrosone, Christine, Nevanlinna, Heli, Yannoukakos, Drakoulis, Slager, Susan L., Vachon, Celine M., Eccles, Diana M., Fasching, Peter A.
Vydáno 2015Text -
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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing Autor Whiley, Phillip J., de la Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Pedersen, Inge Sokilde, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, de Garibay, Gorka Ruiz, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Chan, Tsun Leung, Colombo, Mara, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana, Lázaro, Conxi, Couch, Fergus, Radice, Paolo, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Van Overeem Hansen, Thomas, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen, Wappenschmidt, Barbara, Walker, Logan, Spurdle, Amanda B., Brown, Melissa A.
Vydáno 2013Text -
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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases Autor Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.
Vydáno 2022Text -
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BRCA2 hypomorphic missense variants confer moderate risks of breast cancer Autor Shimelis, Hermela, Mesman, Romy L.S., Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M.G.R., Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M., Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B., Hollestelle, Antoinette, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Collaborators, for NBCS, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L., Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Olswold, Curtis, Oosterwijk, Jan J.C., Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D.P., Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schoemaker, Minouk J., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C., Stram, Daniel O., Swerdlow, Anthony, Teo, Soo H., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wu, Anna H., Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B.M., Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F., Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N.A., Goldgar, David E., Carreira, Aura, Vreeswijk, Maaike P.G., Couch, Fergus J.
Vydáno 2017Text -
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population Autor Antoniou, Antonis C, Wang, Xianshu, Fredericksen, Zachary S, McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M, Healey, Sue, Morrison, Jonathan, Kartsonaki, Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnès, Berthet, Pascaline, Hogervorst, Frans B L, Rookus, Matti A, Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline, van der Luijt, Rob B, Meijers-Heijboer, Hanne, García, Encarna B Gómez, Devilee, Peter, Vreeswijk, Maaike P G, Lubinski, Jan, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Górski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B, Holland, Helene, Goldgar, David E, John, Esther M, Hopper, John L, Southey, Melissa, Buys, Saundra S, Daly, Mary B, Terry, Mary-Beth, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Timothy, Blum, Joanne L, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Blank, Stephanie V, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas, Vijai, Joseph, Gaudet, Mia M, Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra, Radice, Paolo, Caldes, Trinidad, de la Hoya, Miguel, Singer, Christian F, Fink-Retter, Anneliese, Greene, Mark H, Mai, Phuong L, Loud, Jennifer T, Guidugli, Lucia, Lindor, Noralane M, Hansen, Thomas V O, Nielsen, Finn C, Blanco, Ignacio, Lazaro, Conxi, Garber, Judy, Ramus, Susan J, Gayther, Simon A, Phelan, Catherine, Narod, Stephen, Szabo, Csilla I, Benitez, Javier, Osorio, Ana, Nevanlinna, Heli, Heikkinen, Tuomas, Caligo, Maria A, Beattie, Mary S, Hamann, Ute, Godwin, Andrew K, Montagna, Marco, Casella, Cinzia, Neuhausen, Susan L, Karlan, Beth Y, Tung, Nadine, Toland, Amanda E, Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S, Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G, Montgomery, Grant W, Chang-Claude, Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud, Severi, Gianluca, Baglietto, Laura, Cox, Angela, Cross, Simon S, Miron, Penelope, Gerty, Sue M, Tapper, William, Yannoukakos, Drakoulis, Fountzilas, George, Fasching, Peter A, Beckmann, Matthias W, Silva, Isabel dos Santos, Peto, Julian, Lambrechts, Diether, Paridaens, Robert, Rüdiger, Thomas, Försti, Asta, Winqvist, Robert, Pylkäs, Katri, Diasio, Robert B, Lee, Adam M, Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P D, Offit, Kenneth, Pankratz, V Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia, Easton, Douglas F, Couch, Fergus J
Vydáno 2010Text -
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Autor Osorio, Ana, Milne, Roger L., Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I., Beattie, Mary S., Domchek, Susan M., Nathanson, Katherine, Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, John, Esther M., Whittemore, Alice S., Daly, Mary B., Southey, Melissa, Hopper, John, Terry, Mary B., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N., Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K., Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Rookus, Matti A., van Os, Theo A. M., van der Kolk, Lizet, de Lange, J. L., Meijers-Heijboer, Hanne E. J., van der Hout, A. H., van Asperen, Christi J., Gómez Garcia, Encarna B., Hoogerbrugge, Nicoline, Collée, J. Margriet, van Deurzen, Carolien H. M., van der Luijt, Rob B., Devilee, Peter, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th., Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Healey, Sue, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I., Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F., Rappaport, Christine, Geschwantler Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Antoniou, Antonis C., Benitez, Javier
Vydáno 2014Text