학술논문
'학술논문'
에서 검색결과 54건 | 목록
1~10
Academic Journal
McDonagh, Ellen M; Rueda, Antonio; Polychronopoulos, Dimitris; Chan, Georgia; Angus-Leppan, Heather; Bhatia, Kailash P; Davison, James E; Festenstein, Richard; Fratta, Pietro; Giunti, Paola; Howard, Robin; Venkata, Laxmi; Laurá, Matilde; McEntagart, Meriel; Menzies, Lara; Morris, Huw; Reilly, Mary M; Robinson, Robert; Rosser, Elisabeth; Faravelli, Francesca; Schrag, Anette; Schott, Jonathan M; Warner, Thomas T; Wood, Nicholas W; Bourn, David; Eggleton, Kelly; Labrum, Robyn; Twiss, Philip; Abbs, Stephen; Santos, Liana; Almheiri, Ghareesa; Sheikh, Isabella; Vandrovcova, Jana; Patch, Christine; Taylor Tavares, Ana Lisa; Hyder, Zerin; Need, Anna; Brittain, Helen; Baple, Emma; Moutsianas, Loukas; Deshpande, Viraj; Perry, Denise L; Ajay, Subramanian S.; Chawla, Aditi; Rajan, Vani; Oprych, Kathryn; Chinnery, Patrick F; Douglas, Angela; Wilson, Gill; Ellard, Sian; Temple, I Karen; Mumford, Andrew; McMullan, Dom; Naresh, Kikkeri; Flinter, Frances A; Taylor, Jenny C; Greenhalgh, Lynn; Newman, William; Brennan, Paul; Sayer, John A; Raymond, F Lucy; Chitty, Lyn S; Ambrose, John C.; Arumugam, Prabhu; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Craig, Clare E.H.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Furió-Tarí, Pedro; Hackett, Joanne; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; Mueller, Michael; Murugaesu, Nirupa; Odhams, Chris A.; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Thompson, Simon R.; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Ibañez, Kristina; Polke, James ; Hagelstrom, R Tanner ; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Houlden, Henry; Rendon, Augusto; Caulfield, Mark J; Eberle, Michael A; Taft, Ryan J ; Tucci, Arianna
In The Lancet Neurology March 2022 21(3):234-245
Academic Journal
De Franco, Elisa; Flanagan, Sarah E; Houghton, Jayne AL; Allen, Hana Lango; Mackay, Deborah JG; Temple, I Karen; Ellard, Sian; Hattersley, Andrew T
In The Lancet 5-11 September 2015 386(9997):957-963
Academic Journal
Choufani, Sanaa; Gibson, William T; Turinsky, Andrei L; Chung, Brian HY; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana SA; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M; Lynch, Sally Ann; Clericuzio, Carol; Temple, I Karen; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna
American Journal of Human Genetics. 106(5)
Academic Journal
Boycott, Kym M; Hartley, Taila; Biesecker, Leslie G; Gibbs, Richard A; Innes, A Micheil; Riess, Olaf; Belmont, John; Dunwoodie, Sally L; Jojic, Nebojsa; Lassmann, Timo; Mackay, Deborah; Temple, I Karen; Visel, Axel; Baynam, Gareth
Cell. 177(1)
Academic Journal
Twigg, Stephen RF; Hufnagel, Robert B; Miller, Kerry A; Zhou, Yan; McGowan, Simon J; Taylor, John; Craft, Jude; Taylor, Jenny C; Santoro, Stephanie L; Huang, Taosheng; Hopkin, Robert J; Brady, Angela F; Clayton-Smith, Jill; Clericuzio, Carol L; Grange, Dorothy K; Groesser, Leopold; Hafner, Christian; Horn, Denise; Temple, I Karen; Dobyns, William B; Curry, Cynthia J; Jones, Marilyn C; Wilkie, Andrew OM
American Journal of Human Genetics. 98(6)
Academic Journal
Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion‐Almeida, Maria‐Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair GW; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López‐González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny EV; Pyle, Louise C; Quintero‐Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf‐Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; Center, UCLA Clinical Genomics; de Kamp, Jiddeke M; Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A
Human Mutation. 37(2)
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
Tatton-Brown, Katrina; Seal, Sheila; Ruark, Elise; Harmer, Jenny; Ramsay, Emma; del Vecchio Duarte, Silvana; Zachariou, Anna; Hanks, Sandra; O'Brien, Eleanor; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Gener, Blanca; Goudie, David; Homfray, Tessa; Kumar, Ajith; Pilz, Daniela T; Selicorni, Angelo; Temple, I Karen; Van Maldergem, Lionel
Periodical
Alhendi, Ahmed S N; Lim, Derek; McKee, Shane; McEntagart, Meriel; Tatton-Brown, Katriona; Temple, I Karen; Davies, Justin H; Mackay, Deborah J G
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 6 p613-622, 10p
Academic Journal
Poole, Rebecca L; Leith, Donald J; Docherty, Louise E; Shmela, Mansur E; Gicquel, Christine; Splitt, Miranda; Temple, I Karen; Mackay, Deborah J G
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