日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

X连锁少汗型外胚层发育不良的自然史:一项为期5年的随访研究

Wohlfart, Sigrun; Meiller, Ralph; Hammersen, Johanna; Park, Jung; Menzel-Severing, Johannes; Melichar, Volker O; Huttner, Kenneth; Johnson, Ramsey; Porte, Florence; Schneider, Holm

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects

Fc-EDA(一种重组外胚层发育不良蛋白A1替代蛋白)在人体受试者中的安全性和免疫原性

Körber, Iris; Klein, Ophir D; Morhart, Patrick; Faschingbauer, Florian; Grange, Dorothy K; Clarke, Angus; Bodemer, Christine; Maitz, Silvia; Huttner, Kenneth; Kirby, Neil; Durand, Caroline; Schneider, Holm

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

在犬模型中利用重组外胚层发育不良蛋白进行X连锁少汗型外胚层发育不良的产前治疗

Margolis, Carol A; Schneider, Pascal; Huttner, Kenneth; Kirby, Neil; Houser, Timothy P; Wildman, Lee; Grove, Gary L; Schneider, Holm; Casal, Margret L

Pharmacological stimulation of Edar signaling in the adult enhances sebaceous gland size and function.

药物刺激成年动物体内的 Edar 信号通路可增强皮脂腺的大小和功能

Kowalczyk-Quintas Christine, Schuepbach-Mallepell Sonia, Willen Laure, Smith Terry K, Huttner Kenneth, Kirby Neil, Headon Denis J, Schneider Pascal

German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings

德国在常规情况下采用ICD-10-GM和Orpha编号对罕见病进行编码的方法

De Filippi, Paola; Saeidi, Kolsoum; Ravaglia, Sabrina; Dardis, Andrea; Angelini, Corrado; Mongini, Tiziana; Morandi, Lucia; Moggio, Maurizio; Di Muzio, Antonio; Filosto, Massimiliano; Bembi, Bruno; Giannini, Fabio; Marrosu, Giovanni; Rigoldi, Miriam; Tonin, Paola; Servidei, Serenella; Siciliano, Gabriele; Carlucci, Annalisa; Scotti, Claudia; Comelli, Mario; Toscano, Antonio; Danesino, Cesare; Iskrov, Georgi; Houÿez, François; Taruscio, D; Morciano, C; Laricchiuta, P; Mincarone, P; Palazzo, F; Leo, CG; Sabina, S; Guarino, R; Auld, J; Sejersen, T; Gavhed, D; Ritchie, K; Hilton-Boon, M; Manson, J; Kanavos, PG; Tordrup, D; Tzouma, V; Le Cam, Y; Senecat, J; Filippini, G; Minozzi, S; Del Giovane, C; Schünemann, H; Meerpohl, JJ; Prediger, B; Schell, L; Stefanov, R; Iskrov, G; Miteva-Katrandzhieva, T; Serrano-Aguilar, P; Perestelo-Perez, L; Trujillo-Martín, MM; Pérez-Ramos, J; Rivero-Santana, A; Brand, A; van Kranen, H; Bushby, K; Atalaia, A; Ramet, J; Siderius, L; Posada, M; Abaitua-Borda, I; Ferreira, V Alonso; Hens-Pérez, M; Manzanares, FJ; Rath, Ana; Bellet, Bertrand; Olry, Annie; Gonthier, Catherine; Aymé, Ségolène; Mazzucato, Monica; Houyez, François; Facchin, Paola; Faucounneau, Véronique; Rath, Ana; Smedley, Damian; Kohler, Sebastian; Bone, William; Oellrich, Anika; Jacobsen, Jules; Wang, Kai; Mungall, Chris; Washington, Nicole; Bauer, Sebastian; Seelow, Dominic; Krawitz, Peter; Boerkel, Cornelius; Gilissen, Christian; Haendel, Melissa; Lewis, Suzanna E; Robinson, Peter N; Ostergaard, John R; van den Brink, Rinke; Tambuyzer, Erik T; Handelin, Barbara L; Basile, Richard A; Haffner, Marlene E; Münster, Tino; Evers, Pauline J; Hall, Anthony K; Sireau, Nicolas T; Bernardini, Claudia; Muscolo, Luisa AA; Siviero, Paolo D; Montilla, Simona; Pani, Luca; Houÿez, François; Tessier, Ludovic; Synodinos, Dimitrios; Dooms, Marc; Monaco, Lucia; Dan, Dorica; Castro, Raquel; Jessop, Edmund; Muscolo, Luisa AA; Bernardini, Claudia; Siviero, Paolo D; Montilla, Simona; Pani, Luca; Macchia, Flaminia; Hughes-Wilson, Wills; Pogany, Gabor; Holm, Birthe Byskov; Oliveira, Pedro; Zejnilovic, Leid; Canhão, Helena; von Hippel, Eric; Nourissier, Christel; de Chalendar, Myriam; Daniel, Marie; Olry, Annie; Rath, Ana; Choquet, Rémy; Landais, Paul; Winther, Ole; Svenstrup, Dan; Henningsen, Philip P; Kristiásson, Róbert; Jørgensen, Henrik L; Nicholl, Ciarán; Lemli, Annette; Schwarzer, Nicole; Sarnacki, S; de la Paz, M Posada; Alonso, V; Zurriaga, O; Astray, J; Aldana-Espinal, JM; Margolles, MJ; Jiménez, J; Palomar, JA; Santana, M; Ramalle-Gomarra, E; Ramos, JM; Arribas, FE; Álamo, R; Gutiérrez-Ávila, G; Galmés, A; Ribes, M García; Navarro, C; Errezola, M; Ardanaz, ME; Almansa, A; Garcia-Primo, P; Carroquino, MJ; Abaitua, I; Schneider, Holm; Schneider, Pascal; Krieg, Peter; Dang, AnhThu; Huttner, Kenneth; Hermes, Katharina; Castro, Raquel; Dan, Dorica; Muscholl, Marita; Lablans, Martin; Wagner, Thomas OF; Ückert, Frank; Storf, Holger; Hartz, Tobias; Pfeiffer, Wulf; Rommel, Kathrin; Derks, Mareike; Nyoungui, Elisabeth; Schmidtke, Joerg; Graessner, Holm; Knoell, Mirjam; Wagner, Thomas; Ueckert, Frank; Trae, Gro; Lablans, Martin; Kadioglu, Dennis; Muscholl, Marita; Ückert, Frank; Coi, Alessio; Santoro, Michele; Lipucci, Michele; Bianucci, Anna Maria; Gainotti, Sabina; Mollo, Emanuela; Vittozzi, Luciano; Taruscio, Domenica; Bianchi, Fabrizio; Rodwell, Charlotte; Aymé, Ségolène; McCormack, Pauline; Kole, Anna; Alonso, Verónica; Abaitua, Ignacio; Zurriaga, Óscar; Astray, Jenaro; Errezola, Manuel; Aldana-Espinal, Josefa M; Margolles, Mario J; Jiménez, Josep; Palomar, Joaquín A; Santana, Milagrosa; Ramalle-Gomarra, Enrique; Ramos, Julián M; Arribas, Federico E; Álamo, Rufino; Gutiérrez-Ávila, Gonzalo; Galmés, Antònia; García-Ribes, Miguel; Navarro, Carmen; Ardanaz, Eva; de la Paz, Manuel Posada; Wood, Libby; Evangelista, Teresinha; Norwood, Fiona; Orrell, Richard; Pohlschmidt, Marita; Busby, Mark; Graham, Andrew; Hilton-Jones, David; Longman, Cheryl; Lunt, Peter; Roberts, Mark; Watt, Stuart; Watt, Suzanne; Willis, Tracey; Lochmüller, Hanns; Vives Corrons, J L; Mañú Pereira, M; Olaya, L; Wood, Jill; Siedman, Stuart; Siedman, Jennifer; Levy, Paul; Brown, Kyle; McBride, Kim; Flanigan, Kevin; Marques, Raquel; Feldman, Arleta; PleHcha, Robert; Ekins, Sean; Menzel, Olivier; Weber, Stefanie; Dávila, Magdalena

Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia

产前治疗发育障碍:通过羊膜腔内注射药物靶向治疗X连锁少汗型外胚层发育不良

Martínez-Mesa, Jeovany; Menezes, Ana Maria Baptista; Howe, Laura D; Wehrmeister, Fernando Cesar; Muniz, Ludmila Correia; González-Chica, David Alejandro; Assunção, Maria Cecilia; Gonçalves, Helen; Barros, Fernando C; Schneider, Holm; Schneider, Pascal; Krieg, Peter; Dang, AnhThu; Huttner, Kenneth; Hermes, Katharina

Parallel testing of several genes (panel-testing) in patients with ectodermal dysplasia using next-generation sequencing

利用新一代测序技术对患有外胚层发育不良的患者进行多个基因的平行检测(基因组检测)。

Belfquih, Hatim; El Mostarchid, Brahim; Oukabli, Mohamed; Akhaddar, Ali; Boucetta, Mohammed; Leeb, Tosso; Guazzarotti, L; Tadini, G; Mancini, GE; Giglio, S; Sani, I; Nannini, P; Bosoni, M; Bottero, A; Caimi, A; Morelli, M; Zuccotti, GV; Montanari, M; Callea, M; Battelli, F; Corinaldesi, G; Sapigni, L; Marchetti, C; Piana, G; Fedele, G; Norderyd, J; Reinert, Siegmar; Callea, M; Yavuz, I; Deroma, L; Montanari, M; Clarich, G; Maglione, M; Albertini, E; Garavelli, L; Bergendal, Birgitta; Kovács, G; Endreffy, E; Maróti, Z; Stanford, Clark M; Toupenay, S; de la Dure, M; Razanamihaja, N; Berdal, A; Boy-Lefèvre, M-L; Gal, Andreas; Bücher, K; Kurtz, KS; Callea, M; Maglione, M; Yavuz, I; Deroma, L; Willoughby, CE; Tadini, G; Divekar, D; Huttner, KM; Grange, DK; Klein, OD; Schneider, H; Thesleff, Irma; Schneider, Holm; Callea, M; Grecchi, F; Carinci, F; Mancini, EG; Fete, Timothy J; Huttner, Kenneth; Dietz, J; Kaercher, T; Schneider, AT; Zimmermann, T; Huttner, K; Johnson, R; Schneider, H; Neukam, Friedrich Wilhelm; Bohring, Axel; Gomez, Karla Padilla; Blum, Elzbieta; Itin, Peter H; Hammersen, Johanna E; McAllister, Anita; Kaercher, Thomas; Weber, Heiner; Gaide, Olivier; Gabriel, HD; Decker, E; Gencik, M