학술논문
'학술논문'
에서 검색결과 202건 | 목록
1~10
Academic Journal
Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; Nambot, S; Alkuraya, FS; Hashem, MO; Alhashem, A; Tabarki, B; Alamri, AS; Al Safar, AH; Bubshait, DK; Alahmady, NF; Gleeson, JG; Abdel-Hamid, MS; Lesko, N; Ygberg, S; Correia, SP; Wredenberg, A; Alavi, S; Seyedhassani, SM; Nasab, ME; Hussien, H; Omar, TEI; Harzallah, I; Touraine, R; Tajsharghi, H; Morsy, H; Houlden, H; Shahrooei, M; Ghavideldarestani, M; Abdel-Salam, GMH; Torella, A; Zanobio, M; Terrone, G; Brunetti-Pierri, N; Omrani, A; Hentschel, J; Lemke, JR; Sticht, H; Abou Jamra, R; Brown, AEX; Maroofian, R; Platzer, K
American journal of human genetics. 109(8):1421-1435
Academic Journal
Picketts, D; Mirzaa, G; Yan, K; Relator, R; Timpano, S; Yalcin, B; Collins, S; Ziegler, A; Pao, E; Oyama, N; Brischoux-Boucher, E; Piard, J; Monaghan, K; Sacoto, MG; Dobyns, W; Park, K; Fernández-Mayoralas, D; Fernández-Jaén, A; Jayakar, P; Brusco, A; Antona, V; Giorgio, E; Kvarnung, M; Isidor, B; Conrad, S; Cogné, B; Deb, W; Stuurman, KE; Sterbova, K; Smal, N; Weckhuysen, S; Oegema, R; Innes, M; Latsko, M; Ben-Omran, T; Yeh, R; Kruer, M; Bakhtiari, S; Papavasiliou, A; Moutton, S; Nambot, S; Chanprasert, S; Paolucci, S; Miller, K; Burton, B; Kim, K; O'Heir, E; Bruwer, Z; Donald, K; Kleefstra, T; Goldstein, A; Angle, B; Bontempo, K; Miny, P; Joset, P; Demurger, F; Hobson, E; Pang, L; Carpenter, L; Li, D; Bonneau, D; Sadikovic, B
Research square.
Academic Journal
Hakkaart, C; Pearson, JF; Marquart, L; Dennis, J; Wiggins, GAR; Barnes, DR; Robinson, BA; Mace, PD; Aittomaki, K; Andrulis, IL; Arun, BK; Azzollini, J; Balmana, J; Barkardottir, RB; Belhadj, S; Berger, L; Blok, MJ; Boonen, SE; Borde, J; Bradbury, AR; Brunet, J; Buys, SS; Caligo, MA; Campbell, I; Chung, WK; Claes, KBM; Collonge-Rame, MA; Cook, J; Cosgrove, C; Couch, FJ; Daly, MB; Dandiker, S; Davidson, R; de la Hoya, M; de Putter, R; Delnatte, C; Dhawan, M; Diez, O; Ding, YC; Domchek, SM; Donaldson, A; Eason, J; Easton, DF; Ehrencrona, H; Engel, C; Evans, DG; Faust, U; Feliubadalo, L; Fostira, F; Friedman, E; Frone, M; Frost, D; Garber, J; Gayther, SA; Gehrig, A; Gesta, P; Godwin, AK; Goldgar, DE; Greene, MH; Hahnen, E; Hake, CR; Hamann, U; Hansen, TVO; Hauke, J; Hentschel, J; Herold, N; Honisch, E; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Izquierdo, A; Jakubowska, A; James, PA; Janavicius, R; John, EM; Joseph, V; Karlan, BY; Kemp, Z; Kirk, J; Konstantopoulou, I; Koudijs, M; Kwong, A; Laitman, Y; Lalloo, F; Lasset, C; Lautrup, C; Lazaro, C; Legrand, C; Leslie, G; Lesueur, F; Mai, PL; Manoukian, S; Mari, V; Martens, JWM; McGuffog, L; Mebirouk, N; Meindl, A; Miller, A; Montagna, M; Moserle, L; Mouret-Fourme, E; Musgrave, H; Nambot, S; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Yie, JNY; Nguyen-Dumont, T; Nikitina-Zake, L; Offit, K; Olah, E; Olopade, OI; Osorio, A; Ott, CE; Park, SK; Parsons, MT; Pedersen, IS; Peixoto, A; Perez-Segura, P; Peterlongo, P; Pocza, T; Radice, P; Ramser, J; Rantala, J; Rodriguez, GC; Ronlund, K; Rosenberg, EH; Rossing, M; Schmutzler, RK; Shah, PYD; Sharif, S; Sharma, P; Side, LE; Simard, J; Singer, CF; Snape, K; Steinemann, D; Stoppa-Lyonnet, D; Sutter, C; Tan, YY; Teixeira, MR; Teo, SH; Thomassen, M; Thull, DL; Tischkowitz, M; Toland, AE; Trainer, AH; Tripathi, V; Tung, NA; van Engelen, K; van Rensburg, EJ; Vega, A; Viel, A; Walker, L; Weitzel, JN; Wevers, MR; Chenevix-Trench, G; Spurdle, AB; Antoniou, AC; Walker, LC
Communications biology. 5(1):1061
Academic Journal
Christopher Hakkaart; John F. Pearson; Louise Marquart; Joe Dennis; George A. R. Wiggins; Daniel R. Barnes; Bridget A. Robinson; Peter D. Mace; Kristiina Aittomäki; Irene L. Andrulis; Banu K. Arun; Jacopo Azzollini; Judith Balmaña; Rosa B. Barkardottir; Sami Belhadj; Lieke Berger; Marinus J. Blok; Susanne E. Boonen; Julika Borde; Angela R. Bradbury; Joan Brunet; Saundra S. Buys; Maria A. Caligo; Ian Campbell; Wendy K. Chung; Kathleen B. M. Claes; GEMO Study Collaborators; EMBRACE Collaborators; Marie-Agnès Collonge-Rame; Jackie Cook; Casey Cosgrove; Fergus J. Couch; Mary B. Daly; Sita Dandiker; Rosemarie Davidson; Miguel de la Hoya; Robin de Putter; Capucine Delnatte; Mallika Dhawan; Orland Diez; Yuan Chun Ding; Susan M. Domchek; Alan Donaldson; Jacqueline Eason; Douglas F. Easton; Hans Ehrencrona; Christoph Engel; D. Gareth Evans; Ulrike Faust; Lidia Feliubadaló; Florentia Fostira; Eitan Friedman; Megan Frone; Debra Frost; Judy Garber; Simon A. Gayther; Andrea Gehrig; Paul Gesta; Andrew K. Godwin; David E. Goldgar; Mark H. Greene; Eric Hahnen; Christopher R. Hake; Ute Hamann; Thomas V. O. Hansen; Jan Hauke; Julia Hentschel; Natalie Herold; Ellen Honisch; Peter J. Hulick; Evgeny N. Imyanitov; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Claudine Isaacs; Louise Izatt; Angel Izquierdo; Anna Jakubowska; Paul A. James; Ramunas Janavicius; Esther M. John; Vijai Joseph; Beth Y. Karlan; Zoe Kemp; Judy Kirk; Irene Konstantopoulou; Marco Koudijs; Ava Kwong; Yael Laitman; Fiona Lalloo; Christine Lasset; Charlotte Lautrup; Conxi Lazaro; Clémentine Legrand; Goska Leslie; Fabienne Lesueur; Phuong L. Mai; Siranoush Manoukian; Véronique Mari; John W. M. Martens; Lesley McGuffog; Noura Mebirouk; Alfons Meindl; Austin Miller; Marco Montagna; Lidia Moserle; Emmanuelle Mouret-Fourme; Hannah Musgrave; Sophie Nambot; Katherine L. Nathanson; Susan L. Neuhausen; Heli Nevanlinna; Joanne Ngeow Yuen Yie; Tu Nguyen-Dumont; Liene Nikitina-Zake; Kenneth Offit; Edith Olah; Olufunmilayo I. Olopade; Ana Osorio; Claus-Eric Ott; Sue K. Park; Michael T. Parsons; Inge Sokilde Pedersen; Ana Peixoto; Pedro Perez-Segura; Paolo Peterlongo; Timea Pocza; Paolo Radice; Juliane Ramser; Johanna Rantala; Gustavo C. Rodriguez; Karina Rønlund; Efraim H. Rosenberg; Maria Rossing; Rita K. Schmutzler; Payal D. Shah; Saba Sharif; Priyanka Sharma; Lucy E. Side; Jacques Simard; Christian F. Singer; Katie Snape; Doris Steinemann; Dominique Stoppa-Lyonnet; Christian Sutter; Yen Yen Tan; Manuel R. Teixeira; Soo Hwang Teo; Mads Thomassen; Darcy L. Thull; Marc Tischkowitz; Amanda E. Toland; Alison H. Trainer; Vishakha Tripathi; Nadine Tung; Klaartje van Engelen; Elizabeth J. van Rensburg; Ana Vega; Alessandra Viel; Lisa Walker; Jeffrey N. Weitzel; Marike R. Wevers; Georgia Chenevix-Trench; Amanda B. Spurdle; Antonis C. Antoniou; Logan C. Walker
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
Academic Journal
Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J; Schnur, Rhonda E; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphné; Nambot, Sophie; Moutton, Sébastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christèle; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J; Masser-Frye, Diane; Bird, Lynne M; Lindstrom, Kristin; Ramsey, Keri M; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H; Klein Wassink-Ruiter, Jolien S; Bijlsma, Emilia; Hoffer, Mariëtte JV; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A; Machol, Keren; Scott, Daryl A; Bacino, Carlos A; Wang, Xia; Clark, Gary D; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H; Akay, Ela; Chang, Richard C; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogné, Benjamin; Kuechler, Alma; Piton, Amélie; Klee, Eric W; Lefebvre, Véronique; Clark, Karl J; Depienne, Christel
Genetics in Medicine. 22(3)
Academic Journal
Nambot, S.; Sawka, C.; Bertolone, G.; Cosset, E.; Goussot, V.; Derangère, V.; Boidot, R.; Baurand, A.; Robert, M.; Coutant, C.; Loustalot, C.; Thauvin-Robinet, C.; Ghiringhelli, F.; Lançon, A.; Populaire, C.; Damette, A.; Collonge-Rame, M.A.; Meunier-Beillard, N.; Lejeune, C.; Albuisson, J.; Faivre, L.
In European Journal of Medical Genetics May 2021 64(5)
Academic Journal
Tran Mau-Them, Frederic; Moutton, Sebastien; Racine, Caroline; Vitobello, Antonio; Bruel, Ange-Line; Nambot, Sophie; Kushner, Steven A.; de Vrij, Femke M. S.; Lehalle, Daphné; Jean-Marçais, Nolwenn; Lecoquierre, François; Delanne, Julian; Thevenon, Julien; Poe, Charlotte; Jouan, Thibaut; Chevarin, Martin; Geneviève, David; Willems, Marjolaine; Coubes, Christine; Houcinat, Nada; Masurel-Paulet, Alice; Mosca-Boidron, Anne-Laure; Tisserant, Emilie; Callier, Patrick; Sorlin, Arthur; Duffourd, Yannis; Faivre, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel
Human Genetics. 139(11):1381-1390
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Academic Journal
Malbos, M.; Grisval, M.; Delanne, J.; Nambot, S.; Garde, A.; Faivre, L.; Thauvin-Robinet, C.; Wakeling, E.; Gautier, T.; Govin, J.; Boespflug-Tanguy, O.; Busby, L.; Taylor-Miller, T.; Dudoignon, B.; Bokov, P.; Rega, A.; Mourot De Rougemont, M.-G.; Aubriot-Lorton, M.-H.; Darmency, V.; Bensignor, C.; Houzel, A.; Huet, F.; Denommé-Pichon, A.-S.; Tran Mau-Them, F.; Bruel, A.-L.; Safraou, H.; Philippe, C.; Vitobello, A.; Duffourd, Y.
In: Clinical Genetics . (Clinical Genetics, May 2024, 105(5):555-560)
Academic Journal
Demougeot, L.; Houdayer, F.; Pélissier, A.; Mohrez, F.; Thevenon, J.; Duffourd, Y.; Nambot, S.; Gautier, E.; Binquet, C.; Rossi, M.; Sanlaville, D.; Béjean, S.; Peyron, C.; Thauvin-Robinet, C.; Faivre, L.
In Archives de pédiatrie February 2018 25(2):77-83
Academic Journal
Delanne, J.; Nambot, S.; Chassagne, A.; Putois, O.; Pelissier, A.; Peyron, C.; Gautier, E.; Thevenon, J.; Cretin, E.; Bruel, A.L.; Goussot, V.; Ghiringhelli, F.; Boidot, R.; Tran Mau-Them, F.; Philippe, C.; Vitobello, A.; Demougeot, L.; Vernin, C.; Lapointe, A.S.; Bardou, M.; Luu, M.; Binquet, C.; Lejeune, C.; Joly, L.; Juif, C.; Baurand, A.; Sawka, C.; Bertolone, G.; Duffourd, Y.; Sanlaville, D.; Pujol, P.; Geneviève, D.; Houdayer, F.; Thauvin-Robinet, C.; Faivre, L.
In European Journal of Medical Genetics June 2019 62(6)
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