- Li, Na, Zethoven, Magnus, McInerny, Simone, Healey, Eliza, DeSilva, Dilanka, Devereux, Lisa, Scott, Rodney J., James, Paula A., Campbell, Ian G.
- Creator: Li, Na , Zethoven, Magnus , McInerny, Simone , Healey, Eliza , DeSilva, Dilanka , Devereux, Lisa , Scott, Rodney J. , James, Paula A. , Campbell, Ian G.
- Resource Type: journal article
- Date: 2023
- Peluso, Francesca, Caraffi, Stefano G., Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T., Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Contrò, Gianluca, Dyment, David A., Farholt, Stense, Ferreira, Carlos R., Wolfe, Lynne A., Gahl, William A., Gnazzo, Maria, Goel, Himanshu, Gronborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Valeri, Lara, Kleefstra, Tjitske, Koolen, David A., Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F., Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Napoli, Manuela, Novelli, Antonio, Ockeloen, Charlotte W., Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P., Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T., Carboni, Giorgia, Goel, Amy, Taylor, Juliet M., Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Seth, Alka, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja
- Creator: Peluso, Francesca , Caraffi, Stefano G. , Bisgaard, Anne-Marie , Ivanovski, Ivan , Maitz, Silvia , Brischoux-Boucher, Elise , Carter, Melissa T. , Dentici, Maria Lisa , Devriendt, Koenraad , Bellini, Melissa , Digilio, Maria Cristina , Doja, Asif , Contrò, Gianluca , Dyment, David A. , Farholt, Stense , Ferreira, Carlos R. , Wolfe, Lynne A. , Gahl, William A. , Gnazzo, Maria , Goel, Himanshu , Gronborg, Sabine Weller , Hammer, Trine , Iughetti, Lorenzo , Valeri, Lara , Kleefstra, Tjitske , Koolen, David A. , Lepri, Francesca Romana , Lemire, Gabrielle , Louro, Pedro , McCullagh, Gary , Madeo, Simona F. , Milone, Annarita , Milone, Roberta , Nielsen, Jens Erik Klint , Napoli, Manuela , Novelli, Antonio , Ockeloen, Charlotte W. , Pascarella, Rosario , Pippucci, Tommaso , Ricca, Ivana , Robertson, Stephen P. , Sawyer, Sarah , Falkenberg Smeland, Marie , Stegmann, Sander , Stumpel, Constanze T. , Carboni, Giorgia , Goel, Amy , Taylor, Juliet M. , Barbuti, Domenico , Soresina, Annarosa , Bedeschi, Maria Francesca , Battini, Roberta , Cavalli, Anna , Fusco, Carlo , Iascone, Maria , Van Maldergem, Lionel , Seth, Alka , Venkateswaran, Sunita , Zuffardi, Orsetta , Vergano, Samantha , Garavelli, Livia , Bayat, Allan , Zuntini, Roberta , Coccia, Emanuele , Astrea, Guja
- Resource Type: journal article
- Date: 2023
OTX2 duplications: A recurrent cause of oculo-auriculo-vertebral spectrum
- Celse, Tristan, Tingaud-Sequeira, Angèle, Satre, Véronique, Vieville, Gaelle, Bidart, Marie, Zander, Cecilia Soussi, Turesson, Ann-Charlotte, Splitt, Miranda, Reboul, Dorothee, Chiesa, Jean, Van Kien, Philippe Khau, Godin, Manon, Dieterich, Klaus, Gruchy, Nicolas, Goel, Himanshu, Palmer, E, Demetriou, K, Shalhoub, C, Rooryck-Thambo, C, Coutton, C, Siegfried, Geraldine, Lecaignec, Cédric, Bouneau, Laurence, Fannemel, Madeleine, Salaun, Gaelle, Laffargue, Fanny, Martinez, Guillaume
- Creator: Celse, Tristan , Tingaud-Sequeira, Angèle , Satre, Véronique , Vieville, Gaelle , Bidart, Marie , Zander, Cecilia Soussi , Turesson, Ann-Charlotte , Splitt, Miranda , Reboul, Dorothee , Chiesa, Jean , Van Kien, Philippe Khau , Godin, Manon , Dieterich, Klaus , Gruchy, Nicolas , Goel, Himanshu , Palmer, E , Demetriou, K , Shalhoub, C , Rooryck-Thambo, C , Coutton, C , Siegfried, Geraldine , Lecaignec, Cédric , Bouneau, Laurence , Fannemel, Madeleine , Salaun, Gaelle , Laffargue, Fanny , Martinez, Guillaume
- Resource Type: journal article
- Date: 2022
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
- Southey, Melissa C., Goldgar, David E., Heikkinen, Tuomas, Nevanlinna, Heli, Hopper, John L., Dörk, Thilo, Claes, Kathleen B. M., Reis-Filho, Jorge, Teo, Zhi Ling, Radice, Paolo, Catucci, Irene, Peterlongo, Paolo, Winqvist, Robert, Tsimiklis, Helen, Odefrey, Fabrice A., Dowty, JG, Schmidt, MK, Broeks, A, Hogervorst, FB, Verhoef, S, Carpenter, J, Clarke, C, Scott, Rodney J., Pylkäs, Katri, Fasching, PA, Haeberle, L, Ekici, AB, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, MK, Sawyer, EJ, Couch, Fergus, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Burwinkel, B, Yang, R, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Tischkowitz, Marc, Bojesen, S, Nielsen, SF, Flyger, H, Benitez, J, Zamora, MP, Perez, JIA, Menéndez, P, Anton-Culver, H, Neuhausen, S, Ziogas, A, Foulkes, William D., Clarke, CA, Brenner, H, Arndt, V, Stegmaier, C, Brauch, H, Brüning, T, Ko, YD, Muranen, TA, Aittomäki, K, Blomqvist, C, Dennis, Joe, Bogdanova, NV, Antonenkova, NN, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Spurdle, AB, Michailidou, Kyriaki, van Rensburg, Elizabeth J.
- Creator: Southey, Melissa C. , Goldgar, David E. , Heikkinen, Tuomas , Nevanlinna, Heli , Hopper, John L. , Dörk, Thilo , Claes, Kathleen B. M. , Reis-Filho, Jorge , Teo, Zhi Ling , Radice, Paolo , Catucci, Irene , Peterlongo, Paolo , Winqvist, Robert , Tsimiklis, Helen , Odefrey, Fabrice A. , Dowty, JG , Schmidt, MK , Broeks, A , Hogervorst, FB , Verhoef, S , Carpenter, J , Clarke, C , Scott, Rodney J. , Pylkäs, Katri , Fasching, PA , Haeberle, L , Ekici, AB , Beckmann, MW , Peto, J , dos-Santos-Silva, I , Fletcher, O , Johnson, N , Bolla, MK , Sawyer, EJ , Couch, Fergus , Tomlinson, I , Kerin, MJ , Miller, N , Marme, F , Burwinkel, B , Yang, R , Guénel, P , Truong, T , Menegaux, F , Sanchez, M , Tischkowitz, Marc , Bojesen, S , Nielsen, SF , Flyger, H , Benitez, J , Zamora, MP , Perez, JIA , Menéndez, P , Anton-Culver, H , Neuhausen, S , Ziogas, A , Foulkes, William D. , Clarke, CA , Brenner, H , Arndt, V , Stegmaier, C , Brauch, H , Brüning, T , Ko, YD , Muranen, TA , Aittomäki, K , Blomqvist, C , Dennis, Joe , Bogdanova, NV , Antonenkova, NN , Lindblom, A , Margolin, S , Mannermaa, A , Kataja, V , Kosma, VM , Hartikainen, JM , Spurdle, AB , Michailidou, Kyriaki , van Rensburg, Elizabeth J.
- Resource Type: journal article
- Date: 2016
- Creator: Southey, Melissa C. , Goldgar, David E. , Heikkinen, Tuomas , Nevanlinna, Heli , Hopper, John L. , Dörk, Thilo , Claes, Kathleen B. M. , Reis-Filho, Jorge , Teo, Zhi Ling , Radice, Paolo , Catucci, Irene , Peterlongo, Paolo , Winqvist, Robert , Tsimiklis, Helen , Odefrey, Fabrice A. , Dowty, JG , Schmidt, MK , Broeks, A , Hogervorst, FB , Verhoef, S , Carpenter, J , Clarke, C , Scott, Rodney J. , Pylkäs, Katri , Fasching, PA , Haeberle, L , Ekici, AB , Beckmann, MW , Peto, J , dos-Santos-Silva, I , Fletcher, O , Johnson, N , Bolla, MK , Sawyer, EJ , Couch, Fergus , Tomlinson, I , Kerin, MJ , Miller, N , Marme, F , Burwinkel, B , Yang, R , Guénel, P , Truong, T , Menegaux, F , Sanchez, M , Tischkowitz, Marc , Bojesen, S , Nielsen, SF , Flyger, H , Benitez, J , Zamora, MP , Perez, JIA , Menéndez, P , Anton-Culver, H , Neuhausen, S , Ziogas, A , Foulkes, William D. , Clarke, CA , Brenner, H , Arndt, V , Stegmaier, C , Brauch, H , Brüning, T , Ko, YD , Muranen, TA , Aittomäki, K , Blomqvist, C , Dennis, Joe , Bogdanova, NV , Antonenkova, NN , Lindblom, A , Margolin, S , Mannermaa, A , Kataja, V , Kosma, VM , Hartikainen, JM , Spurdle, AB , Michailidou, Kyriaki , van Rensburg, Elizabeth J.
- Resource Type: journal article
- Date: 2016
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
- Thorwarth, Anne, Schnittert-Hüebener, Sarah, Ebert, Grit, Steininger, Anne, Böennemann, Carsten, Brockmann, Knut, Christen, Hans-Jürgen, Crock, Patricia, deZegher, Francis, Griese, Matthias, Hewitt, Jacqueline, Ivarsson, Sten, Schrumpf, Pamela, Hüebner, Christoph, Kapelari, Klaus, Plecko, Barbara, Rating, Dietz, Stoeva, Iva, Ropers, Hans-Hilger, Grüeters, Annette, Ullmann, Reinhard, Krude, Heiko, Müeller, Ines, Jyrch, Sabine, Dame, Christof, Biebermann, Heike, Kleinau, Gunnar, Katchanov, Juri, Schuelke, Markus
- Creator: Thorwarth, Anne , Schnittert-Hüebener, Sarah , Ebert, Grit , Steininger, Anne , Böennemann, Carsten , Brockmann, Knut , Christen, Hans-Jürgen , Crock, Patricia , deZegher, Francis , Griese, Matthias , Hewitt, Jacqueline , Ivarsson, Sten , Schrumpf, Pamela , Hüebner, Christoph , Kapelari, Klaus , Plecko, Barbara , Rating, Dietz , Stoeva, Iva , Ropers, Hans-Hilger , Grüeters, Annette , Ullmann, Reinhard , Krude, Heiko , Müeller, Ines , Jyrch, Sabine , Dame, Christof , Biebermann, Heike , Kleinau, Gunnar , Katchanov, Juri , Schuelke, Markus
- Resource Type: journal article
- Date: 2014
- Lill, Christina M., Liu, Tian, Blaschke, Paul, Winkelmann, Alexander, Gerdes, Lisa-Ann, Luessi, Felix, Fernadez, Oscar, Izquierdo, Guillermo, Antiguedad, Alfredo, Hoffjan, Sabine, Cournu-Rebeix, Isabelle, Gromoller, Silvana, Schjeide, Brit-Maren M., Faber, Hans, Liebsch, Maria, Meissner, Esther, Chanvillard, Coralie, Touze, Emmauel, Pico, Fernando, Corcia, Philippe, Bahlo, Melanie, Booth, David R., Broadley, Simon, Roehr, Johannes T., Brown, Matthew A., Browning, Brian L., Browning, Sharon R., Butzkueven, Helmut, Carroll, William M., Cox, Mathew B., Chapman, Caron, Clarke, Glynnis, Danoy, Patrick, Drysdale, Karen, Akkad, Denis A., Field, Judith, Foote, Simon J., Greer, Judith M., Griffiths, Lyn R., Hadler, Johanna, Jensen, Cathy J., Johnson, Laura J., Kermode, Allan G., Heard, Robert N., Kilpatrick, Trevor J., Damotte, Vincent, Lechner-Scott, Jeanette, Marriott, Mark, Mason, Deborah, Moscato, Pablo, Pender, Michael P., Perreau, Victoria M., Rubio, Justin P., Scott, Rodney J., Slee, Mark, Stankovich, Jim, Alcina, Antonio, Stewart, Graeme J., Tajouri, Lofti, Taylor, Bruce V., Wiley, James, Wilkins, Ella J., Dörner, Thomas, Steinhagen-Thiessen, Elisabeth, Baeckman, Lars, Heekeren, Hauke R., Li, Shu-Chen, Ortiz, Miguel A., Lindenberger, Ulman, Chan, Andrew, Hartung, Hans-Peter, Aktas, Orhan, Lohse, Peter, Kümpfel, Tania, Kubisch, Christian, Epplen, Joerg T., Zettl, Uwe K., Fontaine, Bertrand, Arroyo, Rafa, Vandenbroeck, Koen, Matesanz, Fuencisla, Urcelay, Elena, Bertram, Lars, Zipp, Frauke, Lopez de Lapuente, Aitzkoa
- Creator: Lill, Christina M. , Liu, Tian , Blaschke, Paul , Winkelmann, Alexander , Gerdes, Lisa-Ann , Luessi, Felix , Fernadez, Oscar , Izquierdo, Guillermo , Antiguedad, Alfredo , Hoffjan, Sabine , Cournu-Rebeix, Isabelle , Gromoller, Silvana , Schjeide, Brit-Maren M. , Faber, Hans , Liebsch, Maria , Meissner, Esther , Chanvillard, Coralie , Touze, Emmauel , Pico, Fernando , Corcia, Philippe , Bahlo, Melanie , Booth, David R. , Broadley, Simon , Roehr, Johannes T. , Brown, Matthew A. , Browning, Brian L. , Browning, Sharon R. , Butzkueven, Helmut , Carroll, William M. , Cox, Mathew B. , Chapman, Caron , Clarke, Glynnis , Danoy, Patrick , Drysdale, Karen , Akkad, Denis A. , Field, Judith , Foote, Simon J. , Greer, Judith M. , Griffiths, Lyn R. , Hadler, Johanna , Jensen, Cathy J. , Johnson, Laura J. , Kermode, Allan G. , Heard, Robert N. , Kilpatrick, Trevor J. , Damotte, Vincent , Lechner-Scott, Jeanette , Marriott, Mark , Mason, Deborah , Moscato, Pablo , Pender, Michael P. , Perreau, Victoria M. , Rubio, Justin P. , Scott, Rodney J. , Slee, Mark , Stankovich, Jim , Alcina, Antonio , Stewart, Graeme J. , Tajouri, Lofti , Taylor, Bruce V. , Wiley, James , Wilkins, Ella J. , Dörner, Thomas , Steinhagen-Thiessen, Elisabeth , Baeckman, Lars , Heekeren, Hauke R. , Li, Shu-Chen , Ortiz, Miguel A. , Lindenberger, Ulman , Chan, Andrew , Hartung, Hans-Peter , Aktas, Orhan , Lohse, Peter , Kümpfel, Tania , Kubisch, Christian , Epplen, Joerg T. , Zettl, Uwe K. , Fontaine, Bertrand , Arroyo, Rafa , Vandenbroeck, Koen , Matesanz, Fuencisla , Urcelay, Elena , Bertram, Lars , Zipp, Frauke , Lopez de Lapuente, Aitzkoa
- Resource Type: journal article
- Date: 2012
- Talseth-Palmer, Bente A., Brenne, Ingvild S., Scott, Rodney J., Ashton, Katie A., Evans, Tiffany-Jane, McPhillips, Mary, Groombridge, Claire, Suchy, Janina, Kurzawski, Grzegorz, Spigelman, Allan, Lubinski, Jan
- Creator: Talseth-Palmer, Bente A. , Brenne, Ingvild S. , Scott, Rodney J. , Ashton, Katie A. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire , Suchy, Janina , Kurzawski, Grzegorz , Spigelman, Allan , Lubinski, Jan
- Resource Type: journal article
- Date: 2011
Gastrointestinal polyps in McCune Albright syndrome
- Zacharin, Margaret, Bajpai, Anurag, Chow, Chung Wo, Catto-Smith, Anthony, Stratakis, Constantine, Wong, Michelle W., Scott, Rodney
- Creator: Zacharin, Margaret , Bajpai, Anurag , Chow, Chung Wo , Catto-Smith, Anthony , Stratakis, Constantine , Wong, Michelle W. , Scott, Rodney
- Resource Type: journal article
- Date: 2011
- Maupetit-Méhouas, Stéphanie, Mariot, Virginie, Shenoy, Savitha, Agbo-Kpati, Placide, Ronan, Anne, Naud-Saudreau, Catherine, Lienhardt, Anne, Silve, Caroline, Linglart, Agnès, Reynès, Christelle, Bertrand, Guylène, Feillet, Francois, Carel, Jean-Claude, Simon, Dominique, Bihan, Hélène, Gajdos, Vincent, Devouge, Eve
- Creator: Maupetit-Méhouas, Stéphanie , Mariot, Virginie , Shenoy, Savitha , Agbo-Kpati, Placide , Ronan, Anne , Naud-Saudreau, Catherine , Lienhardt, Anne , Silve, Caroline , Linglart, Agnès , Reynès, Christelle , Bertrand, Guylène , Feillet, Francois , Carel, Jean-Claude , Simon, Dominique , Bihan, Hélène , Gajdos, Vincent , Devouge, Eve
- Resource Type: journal article
- Date: 2011
- Hynes, Kim, Tarpey, Patrick, Haan, Eric, Turner, Gillian, Christodoulou, John, Leonard, Helen, Gill, Deepak, Stratton, Michael R., Gecz, Jozef, Scheffer, Ingrid E., Dibbens, Leanne M., Bayly, Marta A., Berkovic, Samuel F., Smith, Raffaella, Al Raisi, Zahyia, Turner, Samantha J., Brown, Natasha J., Desai, Tarishi D.
- Creator: Hynes, Kim , Tarpey, Patrick , Haan, Eric , Turner, Gillian , Christodoulou, John , Leonard, Helen , Gill, Deepak , Stratton, Michael R. , Gecz, Jozef , Scheffer, Ingrid E. , Dibbens, Leanne M. , Bayly, Marta A. , Berkovic, Samuel F. , Smith, Raffaella , Al Raisi, Zahyia , Turner, Samantha J. , Brown, Natasha J. , Desai, Tarishi D.
- Resource Type: journal article
- Date: 2010
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
- Tan, T. Y., Aftimos, S., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A.
- Creator: Tan, T. Y. , Aftimos, S. , Slavotinek, A. , Hogue, J. , Moeschler, J. B. , Ozmore, J. , Widmer, R. , Savarirayan, R. , Peters, G. , Worgan, L. , Susman, R. , Wilson, M. , Ghedia, S. , Kirk, E. P. , Love, D. , Ronan, A. , Darmanian, A.
- Resource Type: journal article
- Date: 2009
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