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

Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case

MC4R 缺陷引起的单基因肥胖:来自多代病例的启示

Giannopoulou, Eleni Z; Zorn, Stefanie; Schirmer, Melanie; Brandt-Heunemann, Stephanie; Schnurbein, Julia von; Nestoris, Claudia; Moawia, Abubakar; Siebert, Reiner; Denzer, Christian; Wabitsch, Martin

Food-induced anaphylaxis and cofactors - data from the anaphylaxis registry

食物诱发的过敏反应及其协同因素——来自过敏反应登记处的数据

Worm, M; Scherer, K; Köhli-Wiesner, A; Ruëff, F; Mahler, V; Lange, L; Treudler, R; Rietschel, E; Szepfalusi, Z; Lang, R; Rabe, U; Reese, T; Schwerk, N; Beyer, K; Hompes, S; Bircher, A; Przybilla, B; Hawranek, T; Hansen, G; Friedrichs, F; Merk, H; Tenbrock, K; Lehmann, S; Gerstlauer, M; Kleine-Tebbe, J; Niggemann, B; Dickel, H; Bücheler, M; Bieber, T; Hanfland, J; Schmitt-Grohe, S; Vlajnic, D; Heckmann, V; Nemat, K; Schäkel, K; Nordwig, A; Schuster, A; Schweitzer-Krantz, S; Hillen, U; Kopp, M; Szliska, C; Klinge, J; Neustädter, I; Fuchs, T; Bruns, R; Marsch, C; Kreft, B; Coors, E; Rebien, W; Wedi, B; Pföhler, C; Rett, M; Henzgen, M; Vöhringer, P; Fölster-Holst, R; Hunzelmann, N; Siebenhaar, G; Nestoris, S; Schirpke, C; Grabbe, J; Stichtenoth, G; Ring, J; Brockow, K; Brehler, R; Yildiz, I; Volkmuth, S; Geißler, M; Polz, M; Riffelmann, F; Thies, S; Lepp, U; Rabe, U; Rebmann, H; Spindler, T; Klimek, L; Pfaar, O; Brosi, W; Aberer, W; Varga, E; Reider, N; Huttegger, I; Kinaciyan, T; Hoffmann-Sommergruber, K; Eng, P; Helbling, A; Eigenmann, P; Guggenheim, R; Schmid-Grendelmeier, P

A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion

最近发现的双氧化酶成熟因子 (DUOXA) 1 基因的单个拷贝,在携带新型双等位基因 DUOXA2 突变和单等位基因 DUOXA1 缺失的患者中,仅导致轻度短暂性甲状腺功能减退。

Hulur, Imge; Hermanns, Pia; Nestoris, Claudia; Heger, Sabine; Refetoff, Samuel; Pohlenz, Joachim; Grasberger, Helmut