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

Prothrombotic antibodies targeting the spike protein's receptor-binding domain in severe COVID-19.

重症 COVID-19 患者体内针对刺突蛋白受体结合域的促血栓抗体

Zhu Wen, Zheng Yongwei, Yu Mei, Witman Nathan, Zhou Lu, Wei Jianhui, Zhang Yongguang, Topchyan Paytsar, Nguyen Christine, Wang David, Janecke Rae, Padmanabhan Anand, Baumann Kreuziger Lisa, White Gilbert C, Hari Parameswaran, Gu Tongjun, Fields Alexander T, Kornblith Lucy Z, Aster Richard, Zhu Jieqing, Cui Weiguo, Jobe Shawn, Graham Mary Beth, Wang Demin, Wen Renren

Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.

改变的分子伴侣-非肌肉肌球蛋白 II 相互作用驱动了 UNC45A c.710T>C 变异在骨-耳-肝-肠综合征中的致病性

Waich Stephanie, Kreidl Karin, Vodopiutz Julia, Demir Arzu Meltem, Pollio Adam R, Dostál Vojtěch, Pfaller Kristian, Parlato Marianna, Cerf-Bensussan Nadine, Adam Rüdiger, Vogel Georg F, Uhlig Holm H, Ruemmele Frank M, Müller Thomas, Hess Michael W, Janecke Andreas R, Huber Lukas A, Valovka Taras

Congenital enteropathy caused by ezrin deficiency

由埃兹蛋白缺乏引起的先天性肠病

Vogel, Georg F; Klee, Katharina M C; Demir, Arzu Meltem; Garczarczyk-Asim, Dorota; Hess, Michael W; Huber, Lukas A; Müller, Thomas; Janecke, Andreas R

A full response chain surge capacity test of a small rural hospital, prehospital resources and collaborating organisations

对一家小型乡村医院、院前资源和合作机构进行全面的应急响应链扩容能力测试

Ugelvik, Kristina Stølen; Montán, Kristina Lennquist; Thomassen, Øyvind; Braut, Geir Sverre; Geisner, Thomas; Todnem, Silje Longva; Njå, Ove; Seim, Elin; Apelseth, Torunn Oveland; Sjøvold, Janecke Engeberg; Sunde, Geir Arne; Kasin, Sølvi; Montán, Carl

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings

两名兄弟姐妹携带纯合DHCR7 p.Val330Met变异,与轻度非综合征性智力障碍和血清7-脱氢胆固醇水平升高相关

Hackl, Lukas; Haberlandt, Edda; Müller, Thomas; Piribauer, Susanne; Garczarczyk-Asim, Dorota; Zöggeler, Thomas; Karall, Daniela; Zschocke, Johannes; Janecke, Andreas R

PERCC1 -Related Congenital Enteropathy

PERCC1相关先天性肠病

Kerle, Lena S; Karlsland Åkeson, Pia; Müller, Thomas; Janecke, Andreas R

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family

致病性深内含子PCSK1变异导致一个家族出现前蛋白转化酶1/3缺乏症。

Huber, Leah M; Subaşıoğlu, Aslı; Garczarczyk-Asim, Dorota; Valovka, Taras; Müller, Thomas; Adam, Rüdiger; Janecke, Andreas R

Red cell physiologic stress results in lower quality transfusions: a randomized trial in adults with sickle cell disease

红细胞生理应激导致输血质量下降:一项针对镰状细胞病成年患者的随机试验

Karafin, Matthew S; Fasano, Ross M; Ilich, Anton; Wichlan, David; Chang, Ada; Janecke, Rae; Zellner-Jones, Stephanie; James, Sonjile M; Butler, Hailly E; Kolupaev, Oleg; Caughey, Melissa C; Wilson, Samuel R; Key, Nigel S; Field, Joshua J; Little, Jane A

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure

TRPM7 α-激酶结构域的错义变异与儿童复发性急性肝衰竭相关。

Schlieben, Lea D; Achleitner, Melanie T; Bourke, Billy; Diesner, Max; Feichtinger, René G; Fichtner, Alexander; Flechtenmacher, Christa; Hadzic, Nedim; Hegarty, Robert; Heilos, Andreas; Janecke, Andreas; Konstantopoulou, Vassiliki; Lenz, Dominic; Mayr, Johannes A; Müller, Thomas; Prokisch, Holger; Vogel, Georg F

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency

与 2,4-二烯酰辅酶A还原酶 1 缺乏症相关的脂肪肝病

Kohlmaier, Benno; Skok, Kristijan; Lackner, Carolin; Haselrieder, Greta; Müller, Thomas; Sailer, Sabrina; Zschocke, Johannes; Keller, Markus A; Knisely, A S; Janecke, Andreas R