The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.

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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa by Fischer, Björn, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hülya, Alanay, Yasemin, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A., van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva, Kornak, Uwe

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Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype by Scurr, Ingrid, Wilson, Louise, Lees, Melissa, Robertson, Stephen, Kirk, Edwin, Turner, Anne, Morton, John, Kidd, Alexa, Shashi, Vandana, Stanley, Christy, Berry, Margaret, Irvine, Alan D., Goudie, David, Turner, Claire, Brewer, Carole, Smithson, Sarah

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The New Zealand Neuromuscular Disease Registry by Rodrigues, Miriam, Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald, Patel, Rakesh, Dawkins, Hugh, Bellgard, Matthew, Roxburgh, Richard

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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog by Byrnes, Ashley M, Racacho, Lemuel, Grimsey, Allison, Hudgins, Louanne, Kwan, Andrea C, Sangalli, Michel, Kidd, Alexa, Yaron, Yuval, Lau, Yu-Lung, Nikkel, Sarah M, Bulman, Dennis E

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Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant by Fox, Lisa, Sadowsky, Joel, Pringle, Kevin P, Kidd, Alexa, Murdoch, Jean, Cole, David E.C, Wiltshire, Esko

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De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia by Viprakasit, Vip, Kidd, Alexa M. J., Ayyub, Helena, Horsley, Sharon, Hughes, Jim, Higgs, Douglas R.

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Rare Complete and Partial Monosomy 7 Mosaicism Detected in a Case with FTT and Borderline Motor Delay, Subsequently Diagnosed with Juvenile MDS: An Exposition of this Case and Othe... by Bickley, Vivienne M, Parker, Elsa M, Taylor, Jill C, Watt, Jane E, Robertson, Monique D, Doudney, Kit W.E, Cross, Siobhan, Townsend, Janine, Kidd, Alexa M.J, George, Peter M

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Abstract 010: Phosphodiesterase 3a Catalytic-domain Mutants Cause Hypertension With Brachydactyly by Kayser, Charlotte, Bock, Andreas, Leeuwen, Lisette, Herkert, Johanna, Vos, Yvonne, Kidd, Alexa, Aydin, Atakan, Daumke, Oliver, Lohse, Martin, Luft, Friedrich C

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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk by Mavaddat, Nasim, Steyerberg, Ewout W., Pharoah, Paul D.P., Abu-Ful, Zumuruda, Anton-Culver, Hoda, Benitez, Javier, Bonanni, Bernardo, Brucker, Sara Y., Burwinkel, Barbara, Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L., Børresen-Dale, Anne-Lise, Sahlberg, Kristine, Ottestad, Lars, Schlichting, Ellen, Sauer, Toril, Engebråten, Olav, Naume, Bjørn, Kiserud, Cecile, Reinertsen, Kristin, Geisler, Jürgen, Alnæs, Grethe Grenaker, Collée, J. Margriet, Czene, Kamila, Daly, Mary B., Dwek, Miriam, Eccles, Diana M., Fasching, Peter A., Flyger, Henrik, Gago-Dominguez, Manuela, García-Sáenz, José A., González-Neira, Anna, Haiman, Christopher A., Hamann, Ute, Heemskerk-Gerritsen, Bernadette A.M., Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily, Balleine, Rosemary, Bennett, Ian, Brennan, Meagan, Brown, Melissa, Burke, Jo, Chauhan, Deepa, Dickson, Rebecca, Edkins, Ted, Edwards, Stacey, Field, Michael, Flanagan, James, Friedlander, Michael, George, Peter, Harris, Marion, Hayward, Nick, Hopper, John, Hunt, Clare, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Lawrence, Mitchell, McLachlan, Sue Anne, Patterson, Briony, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Salisbury, Elizabeth, Saunders, Christobel, Sexton, Adrienne, Southey, Melissa, Spurdle, Amanda, Visvader, Jane, Williams, Rachael, Ito, Hidemi, Jakimovska, Milena, Janni, Wolfgang, Kang, Daehee, Kristensen, Vessela N., Lubiński, Jan, Mannermaa, Arto, Margolin, Sara, Milne, Roger L., Muranen, Taru A., Neuhausen, Susan L., Peto, Julian, Petridis, Christos, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schwentner, Lukas, Scott, Christopher, See, Mee-Hoong, Shen, Chen-Yang, Shu, Xiao-Ou, Spinelli, John J., Teo, Soo Hwang, van Ongeval, Chantal, van Veen, Elke M., Wolk, Alicja

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Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage by Ercu, Maria, Mücke, Michael B., Pallien, Tamara, Markó, Lajos, Sholokh, Anastasiia, Schächterle, Carolin, Aydin, Atakan, Kidd, Alexa, Walter, Stephan, Esmati, Yasmin, McMurray, Brandon J., Lato, Daniella F., Yumi Sunaga-Franze, Daniele, Dierks, Philip H., Flores, Barbara Isabel Montesinos, Walker-Gray, Ryan, Gong, Maolian, Merticariu, Claudia, Zühlke, Kerstin, Russwurm, Michael, Liu, Tiannan, Batolomaeus, Theda U.P., Pautz, Sabine, Schelenz, Stefanie, Taube, Martin, Napieczynska, Hanna, Heuser, Arnd, Eichhorst, Jenny, Lehmann, Martin, Miller, Duncan C., Diecke, Sebastian, Qadri, Fatimunnisa, Popova, Elena, Langanki, Reika, Movsesian, Matthew A., Herberg, Friedrich W., Forslund, Sofia K., Müller, Dominik N., Borodina, Tatiana, Maass, Philipp G., Bähring, Sylvia, Hübner, Norbert, Bader, Michael, Klussmann, Enno

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The impact of coding germline variants on contralateral breast cancer risk and survival by Morra, Anna, Mavaddat, Nasim, Muranen, Taru A., Allen, Jamie, Andrulis, Irene L., Auvinen, Päivi, Behrens, Sabine, Bolla, Manjeet K., Brauch, Hiltrud, Camp, Nicola J., Geisler, Jürgen, Grenaker Alnæs, Grethe I., Czene, Kamila, Decker, Brennan, Dorling, Leila, Ekici, Arif B., Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Guénel, Pascal, Gündert, Melanie, Hamann, Ute, Harrington, Patricia A., He, Wei, Hooning, Maartje J., Hoppe, Reiner, Howell, Anthony, Amor, David, Andrews, Lesley, Balleine, Rosemary, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Caldon, Liz, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Cohen, Paul, Cui, James, DeFazio, Anna, Delatycki, Martin, Dixon, Joanne, Edkins, Ted, Farshid, Gelareh, Fellows, Andrew, Flanagan, James, Fox, Stephen, French, Juliet, Gaff, Clara, George, Peter, Hunt, Clare, Kidd, Alexa, Koehler, Jessica, Kollias, James, Li, Shuai, Lipton, Lara, Loi, Sherene, Mann, Graham, Marsh, Deborah, McLachlan, Sue Anne, Milne, Roger, Nightingale, Sophie, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Patterson, Briony, Phillips, Kelly, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Saunders, Christobel, Scott, Rodney, Sexton, Adrienne, Shelling, Andrew, Taylor, Jessica, Thorne, Heather, Visvader, Jane, Young, Mary Ann, Zaheed, Milita, Jakubowska, Anna, Keeman, Renske, Kristensen, Vessela N., Milne, Roger L., Mulligan, Anna Marie, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Pharoah, Paul D.P., Rhenius, Valerie, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Tomlinson, Ian, Vreeswijk, Maaike P.G., Wendt, Camilla, Yang, Xiaohong R., Devilee, Peter, Easton, Douglas F.

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Phosphodiesterase 3A activation for cardioprotection by Ercu, Maria, Mücke, Michael, Pallien, Tamara, Marko, Lajos, Sholokh, Anastasiia, Aydin, Atakan, Kidd, Alexa, Walter, Stephan, Esmati, Yasmin, McMurray, Brandon, Lato, Daniella, Sunaga-Franze, Daniele Yumi, Gong, Maolian, Merticariu, Claudia, Zühlke, Kerstin, Russwurm, Michael, Liu, Tiannan, Bartolomaeus, Theda, Schelenz, Stefanie, Taube, Martin, Napieczynska, Hanna, Heuser, Arnd, Lehmann, Martin, Qadri, Fatimunnisa, Popova, Elena, Langanki, Reika, Forslund, Sofia, Müller, Dominik, Borodina, Tatiana, Bähring, Sylvia, Maass, Philipp, Hübner, Norbert, Luft, Friedrich, Bader, Michael, Klussmann, Enno

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Mendelian randomisation study of smoking exposure in relation to breast cancer risk by Park, Hanla A., Neumeyer, Sonja, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Beane Freeman, Laura E., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Campa, Daniele, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Clarke, Christine L., Couch, Fergus J., Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dwek, Miriam, Eliassen, A. Heather, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Giles, Graham G., Goldgar, David E., Grip, Mervi, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Han, Sileny, Hart, Steven N., He, Wei, Heemskerk-Gerritsen, Bernadette A. M., Hopper, John L., Jakubowska, Anna, John, Esther M., Jung, Audrey, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M., Koppert, Linetta B., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lo, Wing-Yee, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Meindl, Alfons, Menon, Usha, Milne, Roger L., Nevanlinna, Heli, Nordestgaard, Børge G., Offit, Kenneth, Olshan, Andrew F., Olsson, Håkan, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Radice, Paolo, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Smeets, Ann, Southey, Melissa C., Spinelli, John J., Tamimi, Rulla M., Tapper, William J., Terry, Mary Beth, Troester, Melissa A., Truong, Thérèse, van Veen, Elke M., Vijai, Joseph, Wang, Sophia, Wendt, Camilla, Wolk, Alicja, Dunning, Alison M., Pharoah, Paul D. P., Chang-Claude, Jenny

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FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women by Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U, Antonenkova, Natalia N, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J, Bogdanova, Natalia V, Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine D, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, Jager, Agnes, Jakubowska, Anna, Khusnutdinova, Elza K, Ko, Yon-Dschun, Kristensen, Vessela N, Lindblom, Annika, Lissowska, Jolanta, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Rashid, Muhammad U, Rhenius, Valerie, Rookus, Matti A, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sironen, Reijo, Southey, Melissa C, Suvanto, Maija, Tollenaar, Rob A E M, Tomlinson, Ian, Truong, Thérèse, van der Kolk, Lizet E, van Veen, Elke M, Wappenschmidt, Barbara, Yang, Xiaohong R, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Lush, Michael, Michailidou, Kyriaki, Pharoah, Paul D P, Wang, Qin, Adank, Muriel A, Schmidt, Marjanka K, Andrulis, Irene L, Chang-Claude, Jenny, Nevanlinna, Heli, Chenevix-Trench, Georgia, Evans, D Gareth, Milne, Roger L, Radice, Paolo, Peterlongo, Paolo

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CYP3A71C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers by Johnson, Nichola, Maguire, Sarah, Morra, Anna, Tomczyk, Katarzyna, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Aronson, Kristan J., Baynes, Caroline, Freeman, Laura E. Beane, Beckmann, Matthias W., Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Boeckx, Bram, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Canzian, Federico, Castelao, Jose E., Chanock, Stephen J., Chenevix-Trench, Georgia, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Dörk, Thilo, Engel, Christoph, Figueroa, Jonine, Flyger, Henrik, Gapstur, Susan M., Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Hahnen, Eric, Hamann, Ute, Harrington, Patricia A., Hopper, John L., Howell, Anthony, Jakubowska, Anna, John, Esther M., Keeman, Renske, Kitahara, Cari M., Koutros, Stella, Kristensen, Vessela N., Kurian, Allison W., Le Marchand, Loic, Linet, Martha, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Mavroudis, Dimitrios, Mayes, Rebecca, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Sune F., Nordestgaard, Børge G., Obi, Nadia, Olson, Janet E., Olsson, Håkan, Park-Simon, Tjoung-Won, Plaseska-Karanfilska, Dijana, Rennert, Gad, Rennert, Hedy S., Ruddy, Kathryn J., Saloustros, Emmanouil, Sawyer, Elinor J., Scott, Christopher, Shu, Xiao-Ou, Simard, Jacques, Smichkoska, Snezhana, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stone, Jennifer, Tamimi, Rulla M., Tollenaar, Rob A. E. M., Tomlinson, Ian, Troester, Melissa A., van Veen, Elke M., Wang, Sophia S., Wendt, Camilla, Wildiers, Hans, Wolk, Alicja, Zheng, Wei, Dunning, Alison M., Pharoah, Paul D. P., Howie, A. Forbes, Peto, Julian, dos-Santos-Silva, Isabel, Swerdlow, Anthony J., Chang-Claude, Jenny, Orr, Nick, Fletcher, Olivia

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Abstract 039: The PDE3A Gene Regulates Blood Pressure by Luft, Friedrich C, Ercu, Maria, Schächterle, Carolin, Marko, Lajos, Maass, Philipp, Zühlke, Kerstin, Kidd, Alexa M, Gregersen, Nerine, Hübner, Norbert, Hodge, Russell, Molé Illas, Rosana, Walter, Stephan, Preissner, Robert, Heuser, Arnd, Anistan, Yoland-Marie, Tsvetkov, Dmitry, Todiras, Mihail, Popova, Elena, Forslund, Sofia, Müller, Dominik N, Gollasch, Maik, Aydin, Atakan, Bähring, Sylvia, Bader, Michael, Klussmann, Enno

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Development and validation of a targeted gene sequencing panel for application to disparate cancers by McCabe, Mark J., Gauthier, Marie-Emilie A., Chan, Chia-Ling, Thompson, Tanya J., De Sousa, Sunita M.C., Puttick, Clare, Grady, John P., Gayevskiy, Velimir, Tao, Jiang, Ying, Kevin, Cipponi, Arcadi, Deng, Niantao, Swarbrick, Alex, Thomas, Melissa L., Lord, Reginald V., Johns, Amber L., Kohonen-Corish, Maija, O’Toole, Sandra A., Clark, Jonathan, Mueller, Simon A., Gupta, Ruta, McCormack, Ann I., Dinger, Marcel E., Cowley, Mark J.

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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations by Stutterd, Chloe A., Kidd, Alexa, Florkowski, Chris, Janus, Edward, Fanjul, Miriam, Raizis, Anthony, Wu, Teddy Y., Archer, John, Leventer, Richard J., Amor, David J., Lukic, Vesna, Bahlo, Melanie, Gow, Paul, Lockhart, Paul J., Knaap, Marjo S., Delatycki, Martin B.

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MicroRNA related polymorphisms and breast cancer risk by Khan, Sofia, Greco, Dario, Michailidou, Kyriaki, Milne, Roger L, Muranen, Taru A, Heikkinen, Tuomas, Aaltonen, Kirsimari, Dennis, Joe, Bolla, Manjeet K, Liu, Jianjun, Hall, Per, Irwanto, Astrid, Humphreys, Keith, Li, Jingmei, Czene, Kamila, Chang-Claude, Jenny, Hein, Rebecca, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Fletcher, Olivia, Peto, Julian, dos Santos Silva, Isabel, Johnson, Nichola, Gibson, Lorna, Aitken, Zoe, Hopper, John L, Tsimiklis, Helen, Bui, Minh, Makalic, Enes, Schmidt, Daniel F, Southey, Melissa C, Apicella, Carmel, Stone, Jennifer, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A, van der Luijt, Rob B, Meindl, Alfons, Schmutzler, Rita K, Müller-Myhsok, Bertram, Lichtner, Peter, Turnbull, Clare, Rahman, Nazneen, Chanock, Stephen J, Hunter, David J, Cox, Angela, Cross, Simon S, Reed, Malcolm W R, Schmidt, Marjanka K, Broeks, Annegien, Van't Veer, Laura J, Hogervorst, Frans B, Fasching, Peter A, Schrauder, Michael G, Ekici, Arif B, Beckmann, Matthias W, Bojesen, Stig E, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Benitez, Javier, Zamora, Pilar M, Perez, Jose I A, Haiman, Christopher A, Henderson, Brian E, Schumacher, Fredrick, Le Marchand, Loic, Pharoah, Paul D P, Dunning, Alison M, Shah, Mitul, Luben, Robert, Brown, Judith, Couch, Fergus J, Wang, Xianshu, Vachon, Celine, Olson, Janet E, Lambrechts, Diether, Moisse, Matthieu, Paridaens, Robert, Christiaens, Marie-Rose, Guénel, Pascal, Truong, Thérèse, Laurent-Puig, Pierre, Mulot, Claire, Marme, Frederick, Burwinkel, Barbara, Schneeweiss, Andreas, Sohn, Christof, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Andrulis, Irene L, Knight, Julia A, Tchatchou, Sandrine, Mulligan, Anna Marie, Dörk, Thilo, Bogdanova, Natalia V, Antonenkova, Natalia N

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