未登录Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
Mansour-Hendili, Lamisse; Blanchard, Anne; Le Pottier, Nelly; Roncelin, Isabelle; Lourdel, Stephane; Treard, Cyrielle; Gonzalez, Wendy; Vergara-Jaque, Ariela; Morin, Gilles; Colin, Estelle; Holder-Espinasse, Muriel; Bacchetta, Justine; Baudouin, Veronique; Benoit, Stephane; Berard, Etienne; Bourdat-Michel, Guylhene; Bouchireb, Karim; Burtey, Stephane; Cailliez, Mathilde; Cardon, Gerard; Cartery, Claire; Champion, Gerard; Chauveau, Dominique; Cochat, Pierre; Dahan, Karin; De la Faille, Renaud; Debray, Francois-Guillaume; Dehoux, Laurenne; Deschenes, Georges; Desport, Estelle; Devuyst, Olivier; Dieguez, Stella; Emma, Francesco; Fischbach, Michel; Fouque, Denis; Fourcade, Jacques; Francois, Helene; Gilbert-Dussardier, Brigitte; Hannedouche, Thierry; Houillier, Pascal; Izzedine, Hassan; Janner, Marco; Karras, Alexandre; Knebelmann, Bertrand; Lavocat, Marie-Pierre; Lemoine, Sandrine; Leroy, Valerie; Loirat, Chantal; Macher, Marie-Alice; Martin-Coignard, Dominique; Morin, Denis; Niaudet, Patrick; Nivet, Hubert; Nobili, Francois; Novo, Robert; Faivre, Laurence; Rigothier, Claire; Roussey-Kesler, Gwenaelle; Salomon, Remi; Schleich, Andreas; Sellier-Leclerc, Anne-Laure; Soulami, Kenza; Tiple, Aurelien; Ulinski, Tim; Vanhille, Philippe; Van Regemorter, Nicole; Jeunemaitre, Xavier; Vargas-Poussou, Rosa .png)
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收藏分享 收藏 Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related PhenotypesCoppieters, Frauke; Casteels, Ingele; Meire, Francoise; De Jaegere, Sarah; Hooghe, Sally; van Regemorter, Nicole; Van Esch, Hilde; Matuleviciene, Ausra; Nunes, Luis; Meersschaut, Valerie; Walraedt, Sophie; Standaert, Lieve; Coucke, Paul; Hoeben, Heidi; Kroes, Hester Y.; Vande Walle, Johan; de Ravel, Thomy; Leroy, Bart P.; De Baere, Elfride 分享 收藏 Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2Ghalamkarpour, Arash; Debaucher, Christian; Haan, Eric; Van Regemorter, Nicole; Sznajer, Yves; Thomas, Dominique; Revencu, Nicole; Gillerot, Yves; Boon, Laurence M.; Vikkula, Miikka 分享 收藏 Identification of 34 Novel and 56 Known FOXL2 Mutations in Patients With Blepharophimosis Syndrome在患有睑裂综合征的患者中鉴定34种新的和56种已知的FOXL2突变Beysen, Diane; De Jaegere, Sarah; Amor, David; Bouchard, Philippe; Christin-Maitre, Sophie; Fellous, Marc; Touraine, Philippe; Grix, Arthur W.; Hennekam, Raoul; Meire, Francoise; Oyen, Nina; Wilson, Louise C.; Barel, Dalit; Clayton-Smith, Jill; de Ravel, Thomy; Decock, Christian; Delbeke, Patricia; Ensenauer, Regina; Ebinger, Friedrich; Gillessen-Kaesbach, Gabriele; Hendriks, Yvonne; Kimonis, Virginia; Laframboise, Rachel; Laissue, Paul; Leppig, Kathleen; Leroy, Bart P.; Miller, David T.; Mowat, David; Neumann, Luitgard; Plomp, Astrid; Van Regemorter, Nicole; Wieczorek, Dagmar; Veitia, Reiner A.; De Paepe, Anne; De Baere, Elfride 分享 收藏 分享 收藏 分享 收藏 分享 收藏 A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11Reyniers, E; Van Bogaert, P; Peeters, N; Vits, L; Pauly, F; Fransen, E; Van Regemorter, N; Kooy, RF 分享 收藏 分享 收藏 Delineation of two distinct 6p deletion syndromesDavies, AF; Mirza, G; Sekhon, G; Turnpenny, P; Leroy, F; Speleman, F; Law, C; van Regemorter, N; Vamos, E; Flinter, F; Ragoussis, J 分享 收藏 分享 收藏 
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