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

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays

cfDNA参考物质对液体活检NGS检测临床性能的影响

Hallermayr, Ariane; Keßler, Thomas; Fujera, Moritz; Liesfeld, Ben; Bernstein, Samuel; von Ameln, Simon; Schanze, Denny; Steinke-Lange, Verena; Pickl, Julia M A; Neuhann, Teresa M; Holinski-Feder, Elke

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors

基因组学研究揭示了可能解释COX-2抑制剂不良心血管效应的机制

Brænne, Ingrid; Willenborg, Christina; Tragante, Vinicius; Kessler, Thorsten; Zeng, Lingyao; Reiz, Benedikt; Kleinecke, Mariana; von Ameln, Simon; Willer, Cristen J; Laakso, Markku; Wild, Philipp S; Zeller, Tanja; Wallentin, Lars; Franks, Paul W; Salomaa, Veikko; Dehghan, Abbas; Meitinger, Thomas; Samani, Nilesh J; Asselbergs, Folkert W; Erdmann, Jeanette; Schunkert, Heribert

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

人类和斑马鱼的颅缝早闭和多发性骨骼畸形是由视黄酸局部降解缺陷引起的

Laue Kathrin, Pogoda Hans-Martin, Daniel Philip B, van Haeringen Arie, Alanay Yasemin, von Ameln Simon, Rachwalski Martin, Morgan Tim, Gray Mary J, Breuning Martijn H, Sawyer Gregory M, Sutherland-Smith Andrew J, Nikkels Peter G, Kubisch Christian, Bloch Wilhelm, Wollnik Bernd, Hammerschmidt Matthias, Robertson Stephen P

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

TPRN基因突变会导致一种进行性常染色体隐性遗传的非综合征性听力损失。

Li, Yun; Pohl, Esther; Boulouiz, Redouane; Schraders, Margit; Nürnberg, Gudrun; Charif, Majida; Admiraal, Ronald J C; von Ameln, Simon; Baessmann, Ingelore; Kandil, Mostafa; Veltman, Joris A; Nürnberg, Peter; Kubisch, Christian; Barakat, Abdelhamid; Kremer, Hannie; Wollnik, Bernd