학술논문
'학술논문'
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1~10
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Gardner, Alison; Ritchie, Tarin; Kroes, Thessa; Scheffer, Ingrid E.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
Sahlberg, Kristine K.; Børresen-Dale, Anne-Lise; Gram, Inger Torhild; Olsen, Karina Standahl; Engebråten, Olav; Naume, Bjørn; Geisler, Jürgen; OSBREAC; Grenaker Alnæs, Grethe I.; Amor, David; Andrews, Lesley; Antill, Yoland; Balleine, Rosemary; Beesley, Jonathan; Bennett, Ian; Bogwitz, Michael; Botes, Leon; Brennan, Meagan; Brown, Melissa; Buckley, Michael; Burke, Jo; Butow, Phyllis; Caldon, Liz; Campbell, Ian; Cao, Michelle; Chakrabarti, Anannya; Chauhan, Deepa; Chauhan, Manisha; Chenevix-Trench, Georgia; Christian, Alice; Cohen, Paul; Colley, Alison; Crook, Ashley; Cui, James; Courtney, Eliza; Cummings, Margaret; Dawson, Sarah-Jane; DeFazio, Anna; Delatycki, Martin; Dickson, Rebecca; Dixon, Joanne; Edkins, Ted; Edwards, Stacey; Farshid, Gelareh; Fellows, Andrew; Fenton, Georgina; Field, Michael; Flanagan, James; Fong, Peter; Forrest, Laura; Fox, Stephen; French, Juliet; Friedlander, Michael; Gaff, Clara; Gattas, Mike; George, Peter; Greening, Sian; Harris, Marion; Hart, Stewart; Hayward, Nick; Hopper, John; Hoskins, Cass; Hunt, Clare; James, Paul; Jenkins, Mark; Kidd, Alexa; Kirk, Judy; Koehler, Jessica; Kollias, James; Lakhani, Sunil; Lawrence, Mitchell; Lee, Jason; Li, Shuai; Lindeman, Geoff; Lipton, Lara; Lobb, Liz; Loi, Sherene; Mann, Graham; Marsh, Deborah; McLachlan, Sue Anne; Meiser, Bettina; Milne, Roger; Nightingale, Sophie; O'Connell, Shona; O'Sullivan, Sarah; Ortega, David Gallego; Pachter, Nick; Pang, Jia-Min; Pathak, Gargi; Patterson, Briony; Pearn, Amy; Phillips, Kelly; Pieper, Ellen; Ramus, Susan; Rickard, Edwina; Robinson, Bridget; Saleh, Mona; Skandarajah, Anita; Salisbury, Elizabeth; Saunders, Christobel; Saunus, Jodi; Scott, Rodney; Scott, Clare; Sexton, Adrienne; Shelling, Andrew; Simpson, Peter; Southey, Melissa; Spurdle, Amanda; Taylor, Jessica; Taylor, Renea; Thorne, Heather; Trainer, Alison; Tucker, Kathy; Visvader, Jane; Walker, Logan; Williams, Rachael; Winship, Ingrid; Young, Mary Ann; Zaheed, Milita; Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Camp, Nicola J.; Carvalho, Sara; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M.; Ekici, Arif B.; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine D.; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Geurts-Giele, Willemina R.R.; Giles, Graham G.; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Hall, Per; Hamann, Ute; Harrington, Patricia A.; He, Wei; Heikkilä, Päivi; Hooning, Maartje J.; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Jakubowska, Anna; Jung, Audrey Y.; Keeman, Renske; Kristensen, Vessela N.; Lubiński, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L.; Mulligan, Anna Marie; Newman, William G.; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Pharoah, Paul D.P.; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J.; Schmutzler, Rita K.; Shah, Mitul; Spurdle, Amanda B.; Tomlinson, Ian; Truong, Thérèse; van Veen, Elke M.; Vreeswijk, Maaike P.G.; Wang, Qin; Wendt, Camilla; Yang, Xiaohong R.; Nevanlinna, Heli; Devilee, Peter; Easton, Douglas F.; Schmidt, Marjanka K.
In The American Journal of Human Genetics 2 March 2023 110(3):475-486
Academic Journal
Cocozza, Sirio; Bosticardo, Sara; Battocchio, Matteo; Corben, Louise; Delatycki, Martin; Egan, Gary; Georgiou‐Karistianis, Nellie; Monti, Serena; Palma, Giuseppe; Pane, Chiara; Saccà, Francesco; Schiavi, Simona; Selvadurai, Louisa; Tranfa, Mario; Daducci, Alessandro; Brunetti, Arturo; Harding, Ian H.
Annals of Clinical and Translational Neurology. July, 2024, Vol. 11 Issue 7, p1691, 12 p.
Academic Journal
Lynch, David; Goldsberry, Angie; Rummey, Christian; Farmer, Jennifer; Boesch, Sylvia; Delatycki, Martin; Giunti, Paola; Hoyle, J; Mariotti, Caterina; Mathews, Katherine; Nachbauer, Wolfgang; Perlman, Susan; Subramony, S; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin
Annals of Clinical and Translational Neurology. 11(1)
Academic Journal
Sahlberg, Kristine K.; Børresen-Dale, Anne-Lise; Gram, Inger Torhild; Olsen, Karina Standahl; Engebråten, Olav; Naume, Bjørn; Geisler, Jürgen; OSBREAC; Grenaker Alnæs, Grethe I.; Amor, David; Andrews, Lesley; Antill, Yoland; Balleine, Rosemary; Beesley, Jonathan; Bennett, Ian; Bogwitz, Michael; Bodek, Simon; Botes, Leon; Brennan, Meagan; Brown, Melissa; Buckley, Michael; Burke, Jo; Butow, Phyllis; Caldon, Liz; Campbell, Ian; Cao, Michelle; Chakrabarti, Anannya; Chauhan, Deepa; Chauhan, Manisha; Christian, Alice; Cohen, Paul; Colley, Alison; Crook, Ashley; Cui, James; Courtney, Eliza; Cummings, Margaret; Dawson, Sarah-Jane; deFazio, Anna; Delatycki, Martin; Dickson, Rebecca; Dixon, Joanne; Edwards, Stacey; Farshid, Gelareh; Fellows, Andrew; Fenton, Georgina; Field, Michael; Flanagan, James; Fong, Peter; Forrest, Laura; Fox, Stephen; French, Juliet; Friedlander, Michael; Gaff, Clara; Gattas, Mike; George, Peter; Greening, Sian; Harris, Marion; Hart, Stewart; Harraka, Philip; Hayward, Nick; Hopper, John; Hoskins, Cass; Hunt, Clare; Jenkins, Mark; Kidd, Alexa; Kirk, Judy; Koehler, Jessica; Kollias, James; Lakhani, Sunil; Lawrence, Mitchell; Lee, Jason; Li, Shuai; Lindeman, Geoff; Lippey, Jocelyn; Lipton, Lara; Lobb, Liz; Loi, Sherene; Mann, Graham; Marsh, Deborah; McLachlan, Sue Anne; Meiser, Bettina; Nightingale, Sophie; O'Connell, Shona; O'Sullivan, Sarah; Ortega, David Gallego; Pachter, Nick; Pang, Jia-Min; Pathak, Gargi; Patterson, Briony; Pearn, Amy; Phillips, Kelly; Pieper, Ellen; Ramus, Susan; Rickard, Edwina; Ragunathan, Abi; Robinson, Bridget; Saleh, Mona; Skandarajah, Anita; Salisbury, Elizabeth; Saunders, Christobel; Saunus, Jodi; Savas, Peter; Scott, Rodney; Scott, Clare; Sexton, Adrienne; Shaw, Joanne; Shelling, Andrew; Srinivasa, Shweta; Simpson, Peter; Taylor, Jessica; Taylor, Renea; Thorne, Heather; Trainer, Alison; Tucker, Kathy; Visvader, Jane; Walker, Logan; Williams, Rachael; Winship, Ingrid; Young, Mary Ann; Zaheed, Milita; Davidson, Aimee L.; Michailidou, Kyriaki; Parsons, Michael T.; Fortuno, Cristina; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Naven, Marc; Abubakar, Mustapha; Ahearn, Thomas U.; Alonso, M. Rosario; Andrulis, Irene L.; Antoniou, Antonis C.; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina A.; Bogdanova, Natalia V.; Bojesen, Stig E.; Brüning, Thomas; Byers, Helen J.; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Trench, Georgia; Collée, J. Margriet; Czene, Kamila; Dörk, Thilo; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine D.; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; González-Neira, Anna; Grassmann, Felix; Gronwald, Jacek; Guénel, Pascal; Hadjisavvas, Andreas; Haeberle, Lothar; Hall, Per; Hamann, Ute; Hartman, Mikael; Ho, Peh Joo; Hooning, Maartje J.; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Khusnutdinova, Elza K.; Kristensen, Vessela N.; Li, Jingmei; Lim, Joanna; Lindblom, Annika; Liu, Jenny; Lophatananon, Artitaya; Mannermaa, Arto; Mavroudis, Dimitrios A.; Mensenkamp, Arjen R.; Milne, Roger L.; Muir, Kenneth R.; Newman, William G.; Obi, Nadia; Panayiotidis, Mihalis I.; Park, Sue K.; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Radice, Paolo; Rashid, Muhammad U.; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J.; Schmidt, Marjanka K.; Seibold, Petra; Shah, Mitul; Southey, Melissa C.; Teo, Soo Hwang; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van de Beek, Irma; van der Hout, Annemieke H.; Wendt, Camilla C.; Dunning, Alison M.; Pharoah, Paul D.P.; Devilee, Peter; Easton, Douglas F.; James, Paul A.; Spurdle, Amanda B.
In The American Journal of Human Genetics 5 September 2024 111(9):2059-2069
Academic Journal
Jensen, Lars R.; Garrett, Lillian; Hölter, Sabine M.; Rathkolb, Birgit; Rácz, Ildikó; Adler, Thure; Prehn, Cornelia; Hans, Wolfgang; Rozman, Jan; Becker, Lore; Aguilar-Pimentel, Juan Antonio; Puk, Oliver; Moreth, Kristin; Dopatka, Monika; Walther, Diego J.; von Bohlen und Halbach, Viola; Rath, Matthias; Delatycki, Martin; Bert, Bettina; Fink, Heidrun; Blümlein, Katharina; Ralser, Markus; Van Dijck, Anke; Kooy, Frank; Stark, Zornitza; Müller, Sabine; Scherthan, Harry; Gecz, Jozef; Wurst, Wolfgang; Wolf, Eckhard; Zimmer, Andreas; Klingenspor, Martin; Graw, Jochen; Klopstock, Thomas; Busch, Dirk; Adamski, Jerzy; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabě; von Bohlen und Halbach, Oliver; Ropers, Hans-Hilger; Kuss, Andreas W.
In BBA - Molecular Basis of Disease 1 September 2019 1865(9):2083-2093
Academic Journal
Pua, Emmanuel Peng Kiat; Desai, Tarishi; Green, Cherie; Trevis, Krysta; Brown, Natasha; Delatycki, Martin; Scheffer, Ingrid; Wilson, Sarah
Autism Research: Official Journal of the International Society for Autism Research; Jul2024, Vol. 17 Issue 7, p1365-1380, 16p
Periodical
Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L. E. Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p928-937, 10p
Academic Journal
Leibowitz, Ruth; Lewis, Sharon; Emery, Jon; Massie, John; Smith, Melanie; Delatycki, Martin; Archibald, Alison
Academic Journal
Corben, Louise; Collins, Veronica; Milne, Sarah; Farmer, Jennifer; Musheno, Ann; Lynch, David; Subramony, Sub; Pandolfo, Massimo; Schulz, Jörg; Lin, Kim; Delatycki, Martin
Orphanet Journal of Rare Diseases. 17(1)
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