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Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, V; Leppig, KA; Lundgren, J; McDonald, MT; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660
Academic Journal
Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xin, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC
American journal of human genetics. 103(5):666-678
Academic Journal
de Lonlay, P ; Fenneteau, O; Touati, G; Mignot, C; Billette de Villemeur, T; Rabier, D; Blanche, S; Ogier de Baulny, H; Saudubray, J.M
In Archives de pédiatrie 2002 9(8):822-835
Academic Journal
Gerkin, RC; Ohla, K; Veldhuizen, MG; Joseph, PV; Kelly, CE; Bakke, AJ; Steele, KE; Farruggia, MC; Pellegrino, R; Pepino, MY; Bouysset, C; Soler, GM; Pereda-Loth, V; Dibattista, M; Cooper, KW; Croijmans, I; Di Pizio, A; Ozdener, MH; Fjaeldstad, AW; Lin, C; Sandell, MA; Singh, PB; Brindha, VE; Olsson, SB; Saraiva, LR; Ahuja, G; Alwashahi, MK; Bhutani, S; D'Errico, A; Fornazieri, MA; Golebiowski, J; Hwang, LD; Öztürk, L; Roura, E; Spinelli, S; Whitcroft, KL; Faraji, F; Fischmeister, FPS; Heinbockel, T; Hsieh, JW; Huart, C; Konstantinidis, I; Menini, A; Morini, G; Olofsson, JK; Philpott, CM; Pierron, D; Shields, VDC; Voznessenskaya, VV; Albayay, J; Altundag, A; Bensafi, M; Bock, MA; Calcinoni, O; Fredborg, W; Laudamiel, C; Lim, J; Lundström, JN; Macchi, A; Meyer, P; Moein, ST; Santamaría, E; Sengupta, D; Domínguez, PP; Yanık, H; Boesveldt, S; de Groot, JHB; Dinnella, C; Freiherr, J; Laktionova, T; Mariño, S; Monteleone, E; Nunez-Parra, A; Abdulrahman, O; Ritchie, M; Thomas-Danguin, T; Walsh-Messinger, J; Al Abri, R; Alizadeh, R; Bignon, E; Cantone, E; Cecchini, MP; Chen, J; Guàrdia, MD; Hoover, KC; Karni, N; Navarro, M; Nolden, AA; Mazal, PP; Rowan, NR; Sarabi-Jamab, A; Archer, NS; Chen, B; Di Valerio, EA; Feeney, EL; Frasnelli, J; Hannum, M; Hopkins, C; Klein, H; Mignot, C; Mucignat, C; Ning, Y; Ozturk, EE; Peng, M; Saatci, O; Sell, EA; Yan, CH; Alfaro, R; Cecchetto, C; Coureaud, G; Herriman, RD; Justice, JM; Kaushik, PK; Koyama, S; Overdevest, JB; Pirastu, N; Ramirez, VA; Roberts, SC; Smith, BC; Cao, H; Wang, H; Balungwe, P; Baguma, M; Hummel, T; Hayes, JE; Reed, DR; Niv, MY; Munger, SD; Parma, V
medRxiv : the preprint server for health sciences.
Academic Journal
Shashi, V; Magiera, MM; Klein, D; Zaki, M; Schoch, K; Rudnik-Schoneborn, S; Norman, A; Neto, OLA; Dusl, M; Yuan, XD; Bartesaghi, L; De Marco, P; Alfares, AA; Marom, R; Arold, ST; Guzman-Vega, FJ; Pena, LDM; Smith, EC; Steinlin, M; Babiker, MOE; Mohassel, P; Foley, AR; Donkervoort, S; Kaur, R; Ghosh, PS; Stanley, V; Musaev, D; Nava, C; Mignot, C; Keren, B; Scala, M; Tassano, E; Picco, P; Doneda, P; Fiorillo, C; Issa, MY; Alassiri, A; Alahmad, A; Gerard, A; Liu, PF; Yang, YP; Ertl-Wagner, B; Kranz, PG; Wentzensen, IM; Stucka, R; Stong, N; Allen, AS; Goldstein, DB; Schoser, B; Rosler, KM; Alfadhel, M; Capra, V; Chrast, R; Strom, TM; Kamsteeg, EJ; Bonnemann, CG; Gleeson, JG; Martini, R; Janke, C; Senderek, J
The EMBO journal. 37(23)
Academic Journal
Gillentine, MA; Wang, TY; Hoekzema, K; Rosenfeld, J; Liu, PF; Guo, H; Kim, CN; De Vries, BBA; Vissers, LELM; Nordenskjold, M; Kvarnung, M; Lindstrand, A; Nordgren, A; Gecz, J; Iascone, M; Cereda, A; Scatigno, A; Maitz, S; Zanni, G; Bertini, E; Zweier, C; Schuhmann, S; Wiesener, A; Pepper, M; Panjwani, H; Torti, E; Abid, F; Anselm, I; Srivastava, S; Atwal, P; Bacino, CA; Bhat, G; Cobian, K; Bird, LM; Friedman, J; Wright, MS; Callewaert, B; Petit, F; Mathieu, S; Afenjar, A; Christensen, CK; White, KM; Elpeleg, O; Berger, I; Espineli, EJ; Fagerberg, C; Brasch-Andersen, C; Hansen, LK; Feyma, T; Hughes, S; Thiffault, I; Sullivan, B; Yan, S; Keller, K; Keren, B; Mignot, C; Kooy, F; Meuwissen, M; Basinger, A; Kukolich, M; Philips, M; Ortega, L; Drummond-Borg, M; Lauridsen, M; Sorensen, K; Lehman, A; Lopez-Rangel, E; Levy, P; Lessel, D; Lotze, T; Madan-Khetarpal, S; Sebastian, J; Vento, J; Vats, D; Benman, LM; Mckee, S; Mirzaa, GM; Muss, C; Pappas, J; Peeters, H; Romano, C; Elia, M; Galesi, O; Simon, MEH; van Gassen, KLI; Simpson, K; Stratton, R; Syed, S; Thevenon, J; Palafoll, IV; Vitobello, A; Bournez, M; Faivre, L; Xia, K; Earl, RK; Nowakowski, T; Bernier, RA; Eichler, EE
Genome medicine. 13(1):63
Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, VA; Leppig, KA; Lundgren, J; McDonald, MT; McLaughlin, HM; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):796-796
Academic Journal
Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xing, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Sadeghpour, A; Davis, EE; Katsanis, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC
American journal of human genetics. 104(3):562-562
Academic Journal
Maillard, A M; Hippolyte, L; Rodriguez-Herreros, B; Chawner, S JRA; Dremmel, D; Agüera, Z; Fagundo, A B; Pain, A; Martin-Brevet, S; Hilbert, A; Kurz, S; Etienne, R; Draganski, B; Jimenez-Murcia, S; Männik, K; Metspalu, A; Reigo, A; Isidor, B; Le Caignec, C; David, A; Mignot, C; Keren, B; Consortium, 16p11.2 European; van den Bree, M BM; Munsch, S; Fernandez-Aranda, F; Beckmann, J S; Reymond, A; Jacquemont, S
International Journal of Obesity. May 01, 2016 40(5):870-876
Academic Journal
Lambert, L; Bienvenu, T; Allou, L; Valduga, M; Echenne, B; Diebold, B; Mignot, C; Héron, D; Roth, V; Saunier, A; Moustaïne, A; Jonveaux, P; Philippe, C
Clinical Genetics. Nov 01, 2012 82(5):499-501
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