학술논문
'학술논문'
에서 검색결과 23건 | 목록
1~10
Academic Journal
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A.
Academic Journal
Mackie, Fiona L.; Cooper, Nicola S.; Whitticase, Louise J.; Smith, Amanda; Martin, William L.; Cooper, Sheldon C.
Academic Journal
Hyder, Zerin; Van Paesschen, Wim; Sabir, Ataf; Sansbury, Francis H.; Burke, Katherine B.; Khan, Naz; Chandler, Kate E.; Cooper, Nicola S.; Wright, Ronnie; McHale, Edward; Van Esch, Hilde; Banka, Siddharth
European Journal of Human Genetics. 29(9):1377-1383
Periodical
Hyder, Zerin; Van Paesschen, Wim; Sabir, Ataf; Sansbury, Francis H.; Burke, Katherine B.; Khan, Naz; Chandler, Kate E.; Cooper, Nicola S.; Wright, Ronnie; McHale, Edward; Van Esch, Hilde; Banka, Siddharth
European Journal of Human Genetics: EJHG; September 2021, Vol. 29 Issue: 9 p1377-1383, 7p
Academic Journal
Reijnders, Margot R.F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A.C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B.A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A.L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Ludecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W.E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P.A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M.A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R.F.; Mathijssen, Irene M.J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O.M.
American Journal of Human Genetics. June 7, 2018, Vol. 102 Issue 6, 1195
Academic Journal
Gil-Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández-Marcos, María; Teresa-Rodrigo, María Esperanza; Marcos-Alcalde, Iñigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K.; Braunholz, Diana; Bueno-Martinez, Inés; Clark, Dinah; Cooper, Nicola S.; Curry, Cynthia J.; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J.; Kaur, Maninder; Keating, Brendan J.; Kibaek, María; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D.; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R.; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D.; Pié, Ángeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H.; So, Joyce; Wusik, Katherine A.; Wilson, Louise; Zhang, Jianguo; Gómez-Puertas, Paulino; Casale, César H.; Ström, Lena; Selicorni, Angelo; Ramos, Feliciano J.; Jackson, Laird G.; Krantz, Ian D.; Das, Soma; Hennekam, Raoul C.M.; Kaiser, Frank J.; FitzPatrick, David R.; Pié, Juan
Human Mutation. Apr 01, 2015 36(4):454-462
Academic Journal
Pal, Aparna; Barber, Thomas M.; Van de Bunt, Martijn; Rudge, Simon A.; Qifeng Zhang; Lachlan, Katherine L.; Cooper, Nicola S.; Linden, Helen; Levy, Jonathan C.; Wakelam, Michael J.O.; Walker, Lisa; Karpe, Fredrik; Gloyn, Anna L.
The New England Journal of Medicine. Sept 13, 2012, Vol. 367 Issue 11, p1002, 10 p.
Academic Journal
Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; Lippe, Charlotte von der; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Study, DDD; Low, Karen J.; Newbury-Ecob, Ruth A.
European Journal of Human Genetics. 26(1):64-74
Academic Journal
Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Loennqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerova, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana; DDD Study
Academic Journal
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M.; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hulya; Avci, Sahin; Hennekam, Raoul C. M.; Lampe, Anne K.; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Smeland, Marie Falkenberg; Mansour, Sahar; Parker, Michael J.; Cook, Jacqueline A.; Splitt, Miranda; Fisher, Richard B.; Fryer, Alan; Magee, Alex C.; Wilkie, Andrew; Barnicoat, Angela; Brady, Angela F.; Cooper, Nicola S.; Mercer, Catherine; Deshpande, Charu; Bennett, Christopher P.; Pilz, Daniela T.; Ruddy, Deborah; Cilliers, Deirdre; Johnson, Diana S.; Josifova, Dragana; Rosser, Elisabeth; Thompson, Elizabeth M.; Wakeling, Emma; Kinning, Esther; Stewart, Fiona; Flinter, Frances; Girisha, Katta M.; Cox, Helen; Firth, Helen V.; Kingston, Helen; Wee, Jamie S.; Hurst, Jane A.; Clayton-Smith, Jill; Tolmie, John; Vogt, Julie; Tatton-Brown, Katrina; Chandler, Kate; Prescott, Katrina; Wilson, Louise; Behnam, Mahdiyeh; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally-Ann; Sisodiya, Sanjay; Mehta, Sarju G.; McKee, Shane A.; Mohammed, Shehla; Holden, Simon; Park, Soo-Mi; Holder, Susan E.; Harrison, Victoria; McConnell, Vivienne; Lam, Wayne K.; Green, Andrew J.; Donnai, Dian; Bitner-Glindzicz, Maria; Donnelly, Deirdre E.; Nellaker, Christoffer; Taylor, Martin S.; FitzPatrick, David R.
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[AR] Cooper, Nicola S.
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