학술논문
'학술논문'
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1~10
Academic Journal
Schanze, Ina; Bunt, Jens; Lim, Jonathan WC; Schanze, Denny; Dean, Ryan J; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J; Cho, Megan T; Dobyns, William B; Donnai, Dian; Douglas, Jessica; Earl, Dawn L; Edwards, Timothy J; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M; Morgan, Sian M; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B; Schneider, Anouck; Sherr, Elliott H; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M; Zenker, Martin; Richards, Linda J
American Journal of Human Genetics. 103(5)
Periodical
Robin, Nathaniel H.; Taylor, Clare J.; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Bingham, Peter; Collins, Kevin J.; Earl, Dawn; Gill, Deepak; Granata, Tiziana; Guerrini, Renzo; Katz, Naomi; Kimonis, Virginia; Lin, Jean‐Pierre; Lynch, David R.; Mohammed, Shehla N.; Massey, Roger F.; McDonald, Marie; Rogers, R. Curtis; Splitt, Miranda; Stevens, Cathy A.; Tischkowitz, Marc D.; Stoodley, Neil; Leventer, Richard J; Pilz, Daniela T.; Dobyns, William B.
American Journal of Medical Genetics. Part A; November 2006, Vol. 140 Issue: 22 p2416-2425, 10p
Academic Journal
Oegema, Renske; Barakat, Tahsin Stefan; Wilke, Martina; Stouffs, Katrien; Amrom, Dina; Aronica, Eleonora; Bahi-Buisson, Nadia; Conti, Valerio; Fry, Andrew E.; Geis, Tobias; Andres, David Gomez; Parrini, Elena; Pogledic, Ivana; Said, Edith; Soler, Doriette; Valor, Luis M.; Zaki, Maha S.; Mirzaa, Ghayda; Dobyns, William B.; Reiner, Orly; Guerrini, Renzo; Pilz, Daniela T.; Hehr, Ute; Leventer, Richard J.; Jansen, Anna C.; Mancini, Grazia M. S.; Di Donato, Nataliya
Nature Reviews Neurology. 16(11):618-635
Academic Journal
Romaniello, Romina; Arrigoni, Filippo; Fry, Andrew E.; Bassi, Maria T.; Rees, Mark I.; Borgatti, Renato; Pilz, Daniela T.; Cushion, Thomas D.
In European Journal of Medical Genetics December 2018 61(12):744-754
Academic Journal
Mirzaa, Ghayda M; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V; Roberts, Nicola; Johnson, Colin A; Singh, Shawn; Kholmanskikh, Stanislav S; Adams, Carissa; Hodge, Rebecca D; Hevner, Robert F; Bonthron, David T; Braun, Kees PJ; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W; Mancini, Grazia MS; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycott, Kym M; Pilz, Daniela T; Ross, M Elizabeth; Dobyns, William B; Sheridan, Eamonn G
Nature Genetics. 46(5)
Academic Journal
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J M; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M C; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong Ae; Kirk, Edwin P; Knoers, Nine V A M; Lacombe, Didier; Lee, Chung; Lo, Ivan F M; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E H; Slavotinek, Anne; Temple, I Karen; van der Burgt, Ineke; de Vries, Bert B A; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie Fung On; Beaulieu, Chandree L; cpgdsconsortium@cheo.on.ca; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M
Orphanet Journal of Rare Diseases. 8(1)
Academic Journal
Kharbanda, Mira; Pilz, Daniela T.; Tomkins, Susan; Chandler, Kate; Saggar, Anand; Fryer, Alan; McKay, Victoria; Louro, Pedro; Smith, Jill Clayton; Burn, John; Kini, Usha; De Burca, Anna; FitzPatrick, David R.; Kinning, Esther
In European Journal of Medical Genetics February 2017 60(2):130-135
Academic Journal
Fry, Andrew E; Fawcett, Katherine A; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A N; Shemer-Meiri, Lilach; Cushion, Thomas D; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I; Patel, Chirag V; Brueton, Louise A; Layet, Valérie; Giuliano, Fabienne; Kerr, Michael P; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L; Kofman, Laura H; Knight, Kristin M; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A; Shaulsky, Gil H; Mirzaa, Ghayda M; Muir, Alison M; Mefford, Heather C; Dobyns, William B; Mackenzie, Amanda B; Mullins, Jonathan G L; Lemke, Johannes R; Bahi-Buisson, Nadia; Traynelis, Stephen F; Iago, Heledd F; Pilz, Daniela T
Brain. Mar 01, 2018 141(3):698-712
Academic Journal
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, Paul A.; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Ajith Kumar, V. K.; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, Karen I.; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.
Nature. Feb 23, 2017 542(7642):433-438
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