학술논문
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1~10
Academic Journal
Traschutz, A; Cortese, A; Reich, S; Dominik, N; Faber, J; Jacobi, H; Hartmann, AM; Rujescu, D; Montaut, S; Echaniz-Laguna, A; Erer, S; Schutz, VC; Tarnutzer, AA; Sturm, M; Haack, TB; Vaucamps-Diedhiou, N; Puccio, H; Schols, L; Klockgether, T; van de Warrenburg, BP; Paucar, M; Timmann, D; Hilgers, RD; Gazulla, J; Strupp, M; Moris, G; Filla, A; Houlden, H; Anheim, M; Infante, J; Basak, AN; Synofzik, M
Neurology. 96(9):E1369-E1382
Academic Journal
Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; Beunders, G; Bisgaard, AM; Bjerregaard, VA; Bruel, AL; Challman, TD; Cogne, B; Coubes, C; de Man, SA; Denomme-Pichon, AS; Dye, TJ; Elmslie, F; Feuk, L; Garcia-Minaur, S; Gertler, T; Giorgio, E; Gruchy, N; Haack, TB; Haldeman-Englert, CR; Haukanes, BI; Hoyer, J; Hurst, ACE; Isidor, B; Soller, MJ; Kushary, S; Kvarnung, M; Landau, YE; Leppig, KA; Lindstrand, A; Kleinendorst, L; MacKenzie, A; Mandrile, G; Mendelsohn, BA; Moghadasi, S; Morton, JE; Moutton, S; Muuller, AJ; O'Leary, M; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Pfundt, R; Pode-Shakked, B; Rauch, A; Repnikova, E; Revah-Politi, A; Ross, MJ; Ruivenkamp, CAL; Sarrazin, E; Savatt, JM; Schluter, A; Schonewolf-Greulich, B; Shad, Z; Shaw-Smith, C; Shieh, JT; Shohat, M; Spranger, S; Thiese, H; Mau-Them, FT; van Bon, B; van de Burgt, I; van de Laar, IMBH; van Drie, E; van Haelst, MM; van Ravenswaaij-Arts, CM; Verdura, E; Vitobello, A; Waldmuller, S; Whiting, S; Zweier, C; Prada, CE; de Vries, BBA; Dobyns, WB; Reiter, SF; Gomez-Puertas, P; Pujol, A; Tumer, Z
Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899
Academic Journal
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
Academic Journal
Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Silva, MTG; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Horster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB
Annals of neurology. 82(6):1004-1015
Academic Journal
Haack, TB; Ignatius, E; Calvo-Garrido, J; Iuso, A; Isohanni, P; Maffezzini, C; Lonnqvist, T; Suomalainen, A; Gorza, M; Kremer, LS; Graf, E; Hartig, M; Berutti, R; Paucar, M; Svenningsson, P; Stranneheim, H; Brandberg, G; Wedell, A; Kurian, MA; Hayflick, SA; Venco, P; Tiranti, V; Strom, TM; Dichgans, M; Horvath, R; Holinski-Feder, E; Freyer, C; Meitinger, T; Prokisch, H; Senderek, J; Wredenberg, A; Carroll, CJ; Klopstock, T
American journal of human genetics. 99(3):735-743
Academic Journal
van der Zee, J; Van Langenhove, T; Kovacs, GG; Dillen, L; Deschamps, W; Engelborghs, S; Matej, R; Vandenbulcke, M; Sieben, A; Dermaut, B; Smets, K; Van Damme, P; Merlin, C; Laureys, A; Van Den Broeck, M; Mattheijssens, M; Peeters, K; Benussi, L; Binetti, G; Ghidoni, R; Borroni, B; Padovani, A; Archetti, S; Pastor, P; Razquin, C; Ortega-Cubero, S; Hernandez, I; Boada, M; Ruiz, A; de Mendonca, A; Miltenberger-Miltenyi, G; do Couto, FS; Sorbi, S; Nacmias, B; Bagnoli, S; Graff, C; Chiang, HH; Thonberg, H; Perneczky, R; Diehl-Schmid, J; Alexopoulos, P; Frisoni, GB; Bonvicini, C; Synofzik, M; Maetzler, W; vom Hagen, JM; Schols, L; Haack, TB; Strom, TM; Prokisch, H; Dols-Icardo, O; Clarimon, J; Lleo, A; Santana, I; Almeida, MR; Santiago, B; Heneka, MT; Jessen, F; Ramirez, A; Sanchez-Valle, R; Llado, A; Gelpi, E; Sarafov, S; Tournev, I; Jordanova, A; Parobkova, E; Fabrizi, GM; Testi, S; Salmon, E; Strobel, T; Santens, P; Robberecht, W; De Jonghe, P; Martin, JJ; Cras, P; Vandenberghe, R; De Deyn, PP; Cruts, M; Sleegers, K; Van Broeckhoven, C
Acta neuropathologica. 128(3):397-410
Conference
Denomme-Pichon, AS; de Boer, E; Jackson, A; Benetti, E; Banka, S; Casari, G; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Ellwanger, K; Faivre, L; Gilissen, C; Graessner, H; Haack, TB; Hammarsjo, A; Havlovicova, M; Hoischen, A; Hugon, A; Kleefstra, T; Lindstrand, A; Lopez-Martin, E; Macek, M; Matalonga, L; Morleo, M; Nigro, V; Nordgren, A; Pettersson, M; Pinelli, M; Pizzi, S; Posada, M; Radio, FC; Renieri, A; Rooryck, C; Ryba, L; Schwarz, M; Tartaglia, M; Thauvin, C; Torella, A; Trimouille, A; Votypka, P; Vyshka, K; Zurek, B; Verloes, A; Vitobello, A; Vissers, L
EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):236-237
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