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

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti

在鱼鳞病中,富含精氨酸而非丙氨酸的羧基末端会触发突变角蛋白10的核转位。

Renz, Patricia; Imahorn, Elias; Spoerri, Iris; Aushev, Magomet; March, Oliver P; Wariwoda, Hedwig; Von Arb, Sarah; Volz, Andreas; Itin, Peter H; Reichelt, Julia; Burger, Bettina

Diagnosis and treatment of lichen sclerosus: an update

硬化性苔藓的诊断和治疗:最新进展

Fistarol, Susanna K; Itin, Peter H

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

Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

家族性腺瘤性息肉病中皮肤病变的患病率:是症状前诊断的标志吗?

Burger, Bettina; Cattani, Nadja; Trueb, Swantje; de Lorenzo, Rosaria; Albertini, Mauro; Bontognali, Emanuele; Itin, Christoph; Schaub, Nathalie; Itin, Peter H; Heinimann, Karl

Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.

LRP4 基因中与骨骼过度生长相关的突变会损害硬骨蛋白促进因子的功能

Leupin Olivier, Piters Elke, Halleux Christine, Hu Shouih, Kramer Ina, Morvan Frederic, Bouwmeester Tewis, Schirle Markus, Bueno-Lozano Manuel, Fuentes Feliciano J Ramos, Itin Peter H, Boudin Eveline, de Freitas Fenna, Jennes Karen, Brannetti Barbara, Charara Nadine, Ebersbach Hilmar, Geisse Sabine, Lu Chris X, Bauer Andreas, Van Hul Wim, Kneissel Michaela