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

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

对左心室致密化不全的遗传结构进行系统的大规模评估,揭示了其多种病因。

Mazzarotto, Francesco; Hawley, Megan H; Beltrami, Matteo; Beekman, Leander; de Marvao, Antonio; McGurk, Kathryn A; Statton, Ben; Boschi, Beatrice; Girolami, Francesca; Roberts, Angharad M; Lodder, Elisabeth M; Allouba, Mona; Romeih, Soha; Aguib, Yasmine; Baksi, A John; Pantazis, Antonis; Prasad, Sanjay K; Cerbai, Elisabetta; Yacoub, Magdi H; O'Regan, Declan P; Cook, Stuart A; Ware, James S; Funke, Birgit; Olivotto, Iacopo; Bezzina, Connie R; Barton, Paul J R; Walsh, Roddy

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

利用7855例心肌病病例和60706个参考样本重新评估孟德尔基因致病性

Walsh, Roddy; Thomson, Kate L; Ware, James S; Funke, Birgit H; Woodley, Jessica; McGuire, Karen J; Mazzarotto, Francesco; Blair, Edward; Seller, Anneke; Taylor, Jenny C; Minikel, Eric V; Exome Aggregation Consortium; MacArthur, Daniel G; Farrall, Martin; Cook, Stuart A; Watkins, Hugh

Decelerated neurodegeneration after intravitreal injection of α-synuclein antibodies in a glaucoma animal model

青光眼动物模型玻璃体内注射 α-突触核蛋白抗体后神经变性减缓

J Teister, F Anders, S Beck, S Funke, H von Pein, V Prokosch, N Pfeiffer, F Grus

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

基于新一代测序技术的拷贝数分析显示,与遗传性心肌病相关的46个基因中缺失和重复的发生率较低。

Ceyhan-Birsoy, Ozge; Pugh, Trevor J; Bowser, Mark J; Hynes, Elizabeth; Frisella, Ashley L; Mahanta, Lisa M; Lebo, Matt S; Amr, Sami S; Funke, Birgit H

The relationship between the California mastitis test, Whiteside test, Brabant mastitis reaction, catalase test, and direct cell counting of milk

加州乳腺炎试验、怀特赛德试验、布拉班特乳腺炎反应、过氧化氢酶试验和牛奶直接细胞计数之间的关系

Astermark, S; Funke, H; Engan-Skei, I