학술논문
'학술논문'
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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
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Academic Journal
Breckpot, J; Anderlid, BM; Alanay, Y; Blyth, M; Brahimi, A; Duban-Bedu, B; Goze, O; Firth, H; Yakicier, MC; Hens, G; Rayyan, M; Legius, E; Vermeesch, JR; Devriendt, K
European journal of human genetics : EJHG. 24(1):51-58
Academic Journal
Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, YP; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BBA; Esko, T; Fernandez, BA; Fernandez-Aranda, F; Fernandez-Real, JM; Gratacos, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Mannik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Gomez, SV; Walha, F; Wu, BL; Yu, YG; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Bena, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; Moustafa, JSE; Elliott, P; Faas, BHW; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jimenez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstatter, A; Knoers, NVAM; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengstrom, C; Thorsteinsdottir, U; Tinahones, FJ; Touraine, R; Vallee, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Volzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AIF; Beckmann, JS; Froguel, P
Nature. 478(7367):97-U111
Academic Journal
Marsaud, Céline; Rossignol, Sylvie; Tounian, Patrick; Netchine, Irène; Dubern, Béatrice; Abadie, V; Alcayde, S; Alembik, Y; Amiel, J; Baujat, G; Baumann-Morel, C; Bieth, E; Bertrand, AM; Bonneau, D; Bouhours Nouet, N; Brachet, C; Brioude, F; Brossier, JP; Boute, O; Cabrol, S; Carel, JC; Chabrol, B; Chivu, O; Christin, P; Collignon, P; Cordier, MP; Cormier Daire, V; Coubes, C; Coupe, B; Coutant, R; Craen, M; Crosnier, H; De Baufort, C; David, A; Delahaye, A; Delobel, B; Delrue, MA; Dieux Coeslier, A; Dommergues, MA; Doray, B; Duban-Bedu, B; Dufresne, S; Edery, P; Esteva, B; Farges, C; Fechtner, I; Francannet, C; Gilbert Dussardier, B; Gilbert, B; Ginglinger, E; Giullano, F; Goldenberg, A; Hamiel, O; Harbison, MD; Heinrichs, C; Heron, D; Holder, M; Houang, M; Genevieve, D; Gerard, M; Gonzales, M; Jantchou, P; Jonveaux, P; Jouk, PS; Kurtz, F; Le Bouc, Y; Le Merrer, M; Linglart, A; Leheup, B; Lebrun, M; Leger, J; Leinhart, A; Loeuille, GA; Manouvrier, S; Martin-Coignard, D; Mas, JC; Mathieu, M; Mercier, S; Mignot, B; Morice-Picard, F; Morin, G; Newfield, R; Odent, S; Oliver-Petit, I; Olivier-Faivre, L; Petriczko, E; Philip, N; Pienkowski, C; Pinson, L; Pinto, G; Polak, M; Quelin, C; Port-lis, M; Reiter, JC; Rio, M; Riviere, MF; Roquelaure, B; Salem, J; Simon, D; Soskin, S; Sznajer, Y; Tauber, M; Thauvin, C; Touraine, R; Teinturier, C; Toutain, A; Van Maldergem, L; Verloes, A; Vincent Delorme, C; Vu-Hong, T-A; Weill, J
Archives of Disease in Childhood. Apr 01, 2015 100(4):353-358
Academic Journal
Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.-L.; Boespflug-Tanguy, O.; Boute-Benejean, O.; Dollfus, H.; Duban-Bedu, B.; Gilbert-Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder-Espinasse, M.; Isidor, B.; Jacquemont, M.-L.; Lacombe, D.; Martin-Coignard, D.; Mathieu-Dramard, M.; Odent, S.; Picone, O.; Pinson, L.; Quelin, C.; Sigaudy, S.; Toutain, A.; Thauvin-Robinet, C.; Kaplan, Josseline; Calvas, Patrick
Clinical Genetics. Oct 01, 2014 86(4):326-334
Academic Journal
Loviglio, M N; Leleu, M; Männik, K; Passeggeri, M; Giannuzzi, G; van der Werf, I; Waszak, S M; Zazhytska, M; Roberts-Caldeira, I; Gheldof, N; Migliavacca, E; Alfaiz, A A; Hippolyte, L; Maillard, A M; Loviglio, Maria Nicla; Männik, Katrin; van der Werf, Ilse; Giannuzzi, Giuliana; Zazhytska, Marianna; Gheldof, Nele; Migliavacca, Eugenia; Alfaiz, Ali A; Roberts-Caldeira, Inês; Hippolyte, Loyse; Maillard, Anne M; Ferrarini, Alessandra; Butschi, Florence Niel; Conrad, Bernard; Addor, Marie-Claude; Belfiore, Marco; Roetzer, Katharina; Dijck, Anke Van; Blaumeiser, Bettina; Kooy, Frank; Roelens, Filip; Dheedene, Annelies; Chiaie, Barbara Delle; Menten, Björn; Oostra, Ann; Caberg, Jean-Hubert; Carter, Melissa; Kellam, Barbara; Stavropoulos, Dimitri J; Marshall, Christian; Scherer, Stephen W; Weksberg, Rosanna; Cytrynbaum, Cheryl; Bassett, Anne; Lowther, Chelsea; Gillis, Jane; MacKay, Sara; Bache, Iben; Ousager, Lilian B; Smerdel, Maja Patricia; Graakjaer, Jesper; Kjaergaard, Susanne; Metspalu, Andres; Mathieu, Michele; Bonneau, Dominique; Guichet, Agnes; Parent, Philippe; Férec, Claude; Gerard, Marion; Plessis, Ghislaine; Lespinasse, James; Masurel, Alice; Marle, Nathalie; Faivre, Laurence; Callier, Patrick; Layet, Valerie; Meur, Nathalie Le; Le Goff, Céline; Duban-Bedu, Bénédicte; Sukno, Sylvie; Boute, Odile; Andrieux, Joris; Blanchet, Patricia; Geneviève, David; Puechberty, Jacques; Schneider, Anouck; Leheup, Bruno; Jonveaux, Philippe; Mercier, Sandra; David, Albert; Le Caignec, Cédric; de Pontual, Loic; Pipiras, Eva; Jacquette, Aurelia; Keren, Boris; Gilbert-Dussardier, Brigitte; Bilan, Frederic; Goldenberg, Alice; Chambon, Pascal; Toutain, Annick; Till, Marianne; Sanlaville, Damien; Leube, Barbara; Royer-Pokora, Brigitte; Grabe, Hans Jörgen; Schmidt, Carsten Oliver; Schurmann, Claudia; Homuth, Georg; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Bernardini, Laura; Novelli, Antonio; Micale, Lucia; Merla, Giuseppe; Zollino, Marcella; Mari, Francesca; Rizzo, Caterina Lo; Renieri, Alessandra; Silengo, Margherita; Vulto-van Silfhout, Anneke T; Schouten, Meyke; Pfundt, Rolph; de Leeuw, Nicole; Vansenne, Fleur; Maas, Saskia M; Barge-Schaapveld, Daniela QCM; Knegt, Alida C; Stadheim, Barbro; Rodningen, Olaug; Houge, Gunnar; Price, Sue; Hawkes, Lara; Campbell, Carolyn; Kini, Usha; Vogt, Julie; Walters, Robin; Blakemore, Alexandra; Gusella, James F; Shen, Yiping; Scott, Daryl; Bacino, Carlos A; Tsuchiya, Karen; Ladda, Roger; Sell, Susan; Asamoah, Alexander; Hamati, Aline I; Rosenfeld, Jill A; Shaffer, Lisa G; Mitchell, Elyse; Hodge, Jennelle C; Beckmann, Jacques S; Jacquemont, Sébastien; Reymond, Alexandre; Ewans, Lisa J; Mowat, David; Walker, Jan; Amor, David J; Esch, Hilde Van; Leroy, Patricia; Bamforth, John-Steven; Babu, Deepti; Isidor, Bertrand; DiDonato, Nataliya; Hackmann, Karl; Passeggeri, Marzia; Haeringen, Arie van; Smith, Rosemarie; Ellingwood, Sara; Farber, Darren M; Puri, Vinay; Zadeh, Neda; Weaver, David D; Miller, Mandy; Wilks, Timothy; Jorgez, Carolina J; Lafayette, DeeDee; Van Dijck, A; Kooy, R F; Sanlaville, D; Rosenfeld, J A; Shaffer, L G; Andrieux, J; Marshall, C; Scherer, S W; Shen, Y; Gusella, J F; Thorsteinsdottir, U; Thorleifsson, G; Dermitzakis, E T; Deplancke, B; Beckmann, J S; Rougemont, J; Jacquemont, S; Reymond, A
Molecular Psychiatry. June 2017, Vol. 22 Issue 6, 836
Academic Journal
Petit, F; Holder-Espinasse, M; Duban-Bedu, B; Bouquillon, S; Boute-Benejean, O; Bazin, A; Rouland, V; Manouvrier-Hanu, S; Delobel, B
Clinical Genetics. Mar 01, 2012 81(3):265-271
Academic Journal
Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M; Munnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling, L; Rosenberg, C; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G
Journal of Medical Genetics. Feb 01, 2012 49(2):104-109
Electronic Resource
O'Donnell-Luria, A.H.; Pais, L.S.; Faundes, V.; Wood, J.C.; Sveden, A.; Luria, V.; Jamra, R. Abou; Accogli, A.; Amburgey, K.; Anderlid, B.M.; Azzarello-Burri, S.; Basinger, A.A.; Bianchini, C.; Bird, L.M.; Buchert, R.; Carre, W.; Ceulemans, S.; Charles, P.; Cox, H.; Culliton, L.; Curro, A.; Demurger, F.; Dowling, J.J.; Duban-Bedu, B.; Dubourg, C.; Eiset, S.E.; Escobar, L.F.; Ferrarini, A.; Haack, T.B.; Hashim, M.; Heide, S. van der; Helbig, K.L.; Helbig, I.; Heredia, R.; Heron, D.; Isidor, B.; Jonasson, A.R.; Joset, P.; Keren, B.; Kok, F.; Kroes, H.Y.; Lavillaureix, A.; Lu, X.; Maas, S.M.; Maegawa, G.H.; Marcelis, C.L.M.; Mark, P.R.; Masruha, M.R.; McLaughlin, H.M.; McWalter, K.; Melchinger, E.U.; Mercimek-Andrews, S.; Nava, C.; Pendziwiat, M.; Person, R.; Ramelli, G.P.; Ramos, L.L.P.; 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, J.C.; Telegrafi, A.; Thiffault, I.; Trauner, D.A.; Linden, H., Jr. van der; Koningsbruggen, S. van; Villard, L.; Vogel, I.; Vogt, J.; Weber, Y.G.; Wentzensen, I.M.; Widjaja, E.; Zak, J.; Baxter, S.; Banka, S.; Rodan, L.H.
American Journal of Human Genetics; 1210; 1222; 0002-9297; 6; 104; ~American Journal of Human Genetics~1210~1222~~~0002-9297~6~104~~
Academic Journal
Leitão, E.; Schröder, C.; Parenti, I.; Kühnel, T.; Kuechler, A.; Kaya, S.; Kaiser, F.J.; Horsthemke, B.; Depienne, C.; Dalle, C.; Rastetter, A.; Nava, C.; Mignot, C.; Gérard, B.; Mandel, J.-L.; Piton, A.; Schaefer, E.; Drouot, N.; Engel, C.; Piard, J.; Tran Mau-Them, F.; Duban-Bedu, B.; Villard, L.; Stegmann, A.P.A.; Vanhoutte, E.K.; Verdonschot, J.A.J.; Frints, S.G.M.; Scala, M.; Striano, P.; Argilli, E.; Sherr, E.H.; Elder, F.; Buratti, J.; Keren, B.; Héron, D.; Gecz, J.; Kalscheuer, V.M.
In: Nature Communications . (Nature Communications, December 2022, 13(1))
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