학술논문
'학술논문'
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O'Donnell-Luria, AH; Pais, LS; Faundes, V; Wood, JC; Sveden, A; Luria, V; Abou Jamra, R; Accogli, A; Amburgey, K; Anderlid, BM; Azzarello-Burri, S; Basinger, AA; Bianchini, C; Bird, LM; Buchert, R; Carre, W; Ceulemans, S; Charles, P; Cox, H; Culliton, L; Curro, A; Demurger, F; Dowling, JJ; Duban-Bedu, B; Dubourg, C; Eiset, SE; Escobar, LF; Ferrarini, A; Haack, TB; Hashim, M; Heide, S; Helbig, KL; Helbig, I; Heredia, R; Heron, D; Isidor, B; Jonasson, AR; Joset, P; Keren, B; Kok, F; Kroes, HY; Lavillaureix, A; Lu, X; Maas, SM; Maegawa, GHB; Marcelis, CLM; Mark, PR; Masruha, MR; McLaughlin, HM; McWalter, K; Melchinger, EU; Mercimek-Andrews, S; Nava, C; Pendziwiat, M; Person, R; Ramelli, GP; Ramos, LLP; Rauch, A; Reavey, C; Renieri, A; Riess, A; Sanchez-Valle, A; Sattar, S; Saunders, C; Schwarz, N; Smol, T; Srour, M; Steindl, K; Syrbe, S; Taylor, JC; Telegrafi, A; Thiffault, I; Trauner, DA; van der Linden, H; van Koningsbruggen, S; Villard, L; Vogel, I; Vogt, J; Weber, YG; Wentzensen, IM; Widjaja, E; Zak, J; Baxter, S; Banka, S; Rodan, LH; Mcrae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; Mckay, K; Mckee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, KR; Park, SM; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME
American journal of human genetics. 104(6):1210-1222
Book
In Davidson's Principles and Practice of Medicine Edition: 23rd Edition. 2018:37-59
Academic Journal
Bengani, H; Handley, M; Alvi, M; Ibitoye, R; Lees, M; Lynch, SA; Lam, W; Fannemel, M; Nordgren, A; Malmgren, H; Kvarnung, M; Mehta, S; McKee, S; Whiteford, M; Stewart, F; Connell, F; Clayton-Smith, J; Mansour, S; Mohammed, S; Fryer, A; Morton, J; Grozeva, D; Asam, T; Moore, D; Sifrim, A; McRae, J; Hurles, ME; Firth, HV; Raymond, FL; Kini, U; Nellaker, C; FitzPatrick, DR
Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908
Academic Journal
Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Lord, CJ; Vissers, LELM; de Vries, BBA
American journal of human genetics. 100(4):650-658
Academic Journal
Gil-Rodriguez, MC; Deardorff, MA; Ansari, M; Tan, CA; Parenti, I; Baquero-Montoya, C; Ousager, LB; Puisac, B; Hernandez-Marcos, M; Teresa-Rodrigo, ME; Marcos-Alcalde, I; Wesselink, JJ; Lusa-Bernal, S; Bijlsma, EK; Braunholz, D; Bueno-Martinez, I; Clark, D; Cooper, NS; Curry, CJ; Fisher, R; Fryer, A; Ganesh, J; Gervasini, C; Gillessen-Kaesbach, G; Guo, YR; Hakonarson, H; Hopkin, RJ; Kaur, M; Keating, BJ; Kibaek, M; Kinning, E; Kleefstra, T; Kline, AD; Kuchinskaya, E; Larizza, L; Li, YR; Liu, XZ; Mariani, M; Picker, JD; Pie, A; Pozojevic, J; Queralt, E; Richer, J; Roeder, E; Sinha, A; Scott, RH; So, J; Wusik, KA; Wilson, L; Zhang, JG; Gomez-Puertas, P; Casale, CH; Strom, L; Selicorni, A; Ramos, FJ; Jackson, LG; Krantz, ID; Das, S; Hennekam, RCM; Kaiser, FJ; FitzPatrick, DR; Pie, J
Human mutation. 36(4):454-462
Academic Journal
Mullen, P; Miller, WR; Mackay, J; Fitzpatrick, DR; Langdon, SP; Warner, JP; Miller, W R; Fitzpatrick, D R; Langdon, S P; Warner, J P
British Journal of Cancer; May1997, Vol. 75 Issue 9, p1377-1380, 4p
Academic Journal
International Immunology; Feb1998, Vol. 10 Issue 2, p223-229, 7p
Academic Journal
Bache, I; Van Assche, E; Cingoz, S; Bugge, M; Tumer, Z; Hjorth, M; Lundsteen, C; Lespinasse, J; Winther, K; Niebuhr, A; Kalscheuer, V; Liebaers, I; Bonduelle, M; Tournaye, H; Ayuso, C; Barbi, G; Blennow, E; Bourrouillou, G; Brondum-Nielsen, K; Bruun-Petersen, G; Croquette, MF; Dahoun, S; Dallapiccola, B; Davison, V; Delobel, B; Duba, HC; Duprez, L; Ferguson-Smith, M; FitzPatrick, DR; Grace, E; Hansmann, I; Hulten, M; Jensen, PKA; Jonveaux, P; Kristoffersson, U; Lopez-Pajares, I; McGowan-Jordan, J; Murken, J; Orera, M; Parkin, T; Passarge, E; Ramos, C; Rasmussen, K; Schempp, W; Schubert, R; Schwinger, E; Shabtai, F; Smith, K; Stallings, R; Stefanova, M; Tranebjerg, L; Turleau, C; van der Hagen, CB; Vekemans, M; Vokac, NK; Wagner, K; Wahlstroem, J; Zelante, L; Tommerup, N
European journal of human genetics : EJHG. 12(12):993-1000
Academic Journal
Williamson, KA; Hever, AM; Rainger, J; Rogers, RC; Magee, A; Fiedler, Z; Keng, WT; Sharkey, FH; McGill, N; Hill, CJ; Schneider, A; Messina, M; Turnpenny, PD; Fantes, JA; van Heyningen, V; FitzPatrick, DR
Academic Journal
Faivre, L; Williamson, KA; Faber, V; Laurent, N; Grimaldi, M; Thauvin-Robinet, C; Durand, C; Mugneret, F; Gouyon, JB; Bron, A; Huet, F; Hayward, C; van Heyningen, V; FitzPatrick, DR
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