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

Tendency to consume alcohol among Poles in the light of coping with stress and selected socio-demographic factors during the COVID-19 pandemic

在新冠疫情期间,波兰人应对压力和某些社会人口因素影响下的饮酒倾向

Dębski, Paweł; Garczarczyk, Monika; Lisowska, Lidia; Turska-Czyż, Dorota

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

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

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

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant

由SHOX基因纯合剪接位点变异渗漏引起的Leri-Weill软骨发育不良

Vodopiutz, Julia; Steurer, Lisa-Maria; Haufler, Florentina; Laccone, Franco; Garczarczyk-Asim, Dorota; Hilkenmeier, Matthias; Steinbauer, Philipp; Janecke, Andreas R

Development of an in vitro potency assay for human skeletal muscle derived cells

人类骨骼肌衍生细胞体外效力测定的开发

Marco Thurner, Faheem Asim, Dorota Garczarczyk-Asim, Katrin Janke, Martin Deutsch, Eva Margreiter, Jakob Troppmair, Rainer Marksteiner

Thienoquinolines as novel disruptors of the PKCε/RACK2 protein-protein interaction

噻吩并喹啉作为 PKCε/RACK2 蛋白质-蛋白质相互作用的新型干扰物

Florian Rechfeld, Peter Gruber, Johannes Kirchmair, Markus Boehler, Nina Hauser, Georg Hechenberger, Dorota Garczarczyk, Gennady B Lapa, Maria N Preobrazhenskaya, Peter Goekjian, Thierry Langer, Johann Hofmann