未登录 分享 收藏
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2 ASCC1变体更新：首个涉及先天性骨骨折2型产前发病型脊髓性肌萎缩的纯合错义变体的特征描述 Civit, A.; Kerbellec, L.; Laurenceau, D.; Ung, D. C.; Moizard, M. P.; Ronce, N.; Gueguen, P.; Laumonnier, F.; Brehin, A. C.; Marguet, F.; Laquerriere, A.; Bergemer Fouquet, A. M.; Cirier, J.; Blesson, S.; Arpin, S.; Jeanne, M.; Vuillaume, M. L. 分享 收藏
分享 收藏
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. 分享 收藏
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation Agathe, Jean-Madeleine de Sainte; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurelien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossee, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Elodie; Le Guern, Eric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Francoise; Cogne, Benjamin; Baux, David 分享 收藏
Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis Kimmerlin, Quentin; Dupuis, Arnaud; Bodakuntla, Satish; Weber, Claire; Heim, Veronique; Henriot, Veronique; Moog, Sylvie; Eckly, Anita; Gueguen, Paul; Ferec, Claude; Gachet, Christian; Janke, Carsten; Lanza, Francois 分享 收藏
An essential role for α4A-tubulin in platelet biogenesis (vol 13, e201900309, 2019) Strassel, Catherinei; Magiera, M. Maria; Dupuis, Arnaud; Batzenschlager, Morgane; Hovasse, Agnes; Pleines, Irina; Gueguen, Paul; Eckly, Anita; Moog, Sylvie; Mallo, Lea; Kimmerlin, Quentin; Chappaz, Stephane; Strub, Jean-Marc; Kathiresan, Natarajan; de la Salle, Henri; Van Dorsselaer, Alain; Ferec, Claude; Py, Jean-Yves; Gachet, Christian; Schaeffer-Reiss, Christine; Kile, Benjamin T.; Janke, Carsten; Lanza, Francois 分享 收藏
Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples Keppens, Cleo; Dequeker, Elisabeth M. C.; Rouleau, Etienne; 't Hart, Nils; Bubendorf, Lukas; Dufraing, Kelly; Garrec, Celine; Gueguen, Paul; Lamy, Aude; Marchetti, Antonio; Pauwels, Patrick; Ryska, Ales; Tack, Veronique; Tornillo, Luigi; Van Casteren, Kaat; von der Thusen, Jan H.; Zwaenepoel, Karen; Lissenberg-Witte, Birgit; Thunnissen, Erik; Schuuring, Ed 分享 收藏
A Thrombin-Activatable Factor X Variant Corrects Hemostasis in a Mouse Model for Hemophilia A 凝血酶激活因子X变体可纠正血友病A小鼠模型的止血作用 Muczynski, Vincent; Verhenne, Sebastien; Casari, Caterina; Cherel, Ghislaine; Panicot-Dubois, Laurence; Gueguen, Paul; Trossaert, Marc; Dubois, Christophe; Lenting, Peter J.; Denis, Cecile, V; Christophe, Olivier D. 分享 收藏
Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting El Khattabi, L. Allach; Brun, S.; Gueguen, P.; Chatron, N.; Guichoux, E.; Schutz, S.; Nectoux, J.; Sorlin, A.; Quere, M.; Boudjarane, J.; Tsatsaris, V.; Mandelbrot, L.; Schluth-Bolard, C.; Dupont, J. M.; Rooryck, C.; Cormier, Alexandre; Ferec, Claude; Pipoli, Juliana Da Foncesca; Letourneur, Franck; Bonnet, Celine; Jonveaux, Philippe; Bardel, Claire; Lagarde, Arnaud; Badens, Catherine; Levy, Nicolas; Duboc, Veronique; Paquis-Fluckinger, Veronique; Boureau-Wirth, Amandine; Bannwarth, Sylvie; Arveiler, Benoit; Lacombe, Didier; Medicale, Genetique; Goossens, Michel; Vidaud, Michel; Massardier, Jerome; Saliou, Anne-Helene; Sanlaville, Damien 分享 收藏
An essential role for α4A-tubulin in platelet biogenesis Strassel, Catherine; Magiera, Maria M.; Dupuis, Arnaud; Batzenschlager, Morgane; Hovasse, Agnes; Pleines, Irina; Gueguen, Paul; Eckly, Anita; Moog, Sylvie; Mallo, Lea; Kimmerlin, Quentin; Chappaz, Stephane; Strub, Jean-Marc; Kathiresan, Natarajan; de la Salle, Henri; Van Dorsselaer, Alain; Ferec, Claude; Py, Jean-Yves; Gachet, Christian; Schaeffer-Reiss, Christine; Kile, Benjamin T.; Janke, Carsten; Lanza, Francois 分享 收藏
分享 收藏
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome Luque Paz, Damien; Chauveau, Aurelie; Boyer, Francoise; Buors, Caroline; Samaison, Laura; Cottin, Laurane; Seegers, Valerie; Ferec, Claude; Le Marechal, Cedric; Gueguen, Paul; Lippert, Eric; Ianotto, Jean-Christophe; Ugo, Valerie 分享 收藏
分享 收藏
ALK ambiguous-positive non-small cell lung cancers are tumors challenged by diagnostic and therapeutic issues Uguen, Arnaud; Andrieu-Key, Sophie; Vergne, Florence; Descourt, Renaud; Quere, Gilles; Quintin-Roue, Isabelle; Key, Stephane; Gueguen, Paul; Talagas, Matthieu; De Braekeleer, Marc; Marcorelles, Pascale 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
未登录.png){kind=icon}