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

Ontology-guided clustering enables proteomic analysis of rare pediatric disorders.

基于本体论的聚类分析能够对罕见儿科疾病进行蛋白质组学分析

Itang Ericka C M, Albrecht Vincent, Schebesta Alicia-Sophie, Thielert Marvin, Lanz Anna-Lisa, Danhauser Katharina, Jin Jessica, Prell Tobias, Strobel Sophie, Klein Christoph, Mann Matthias, Pangratz-Fuehrer Susanne, Mueller-Reif Johannes

Using large language models to extract information from pediatric clinical reports

利用大型语言模型从儿科临床报告中提取信息

Danhauser, Katharina; Wang, Yingding; Klein, Christoph; Tacke, Uta; Mantoan, Larissa; Ritter, Laura Aurica; Heinen, Florian; Nobile, Chiara; Tacke, Moritz

On-site electronic consent in pediatrics using generic Informed Consent Service (gICS): Creating a specialized setup and collecting consent data

在儿科中使用通用知情同意服务 (gICS) 进行现场电子知情同意:创建专门的设置并收集同意数据

Danhauser, Katharina; Mantoan, Larissa Dorothea Lina; Dittmer, Jule Marie; Leutner, Simon; Endres, Stephan; Strniscak, Karla; Pfropfreis, Jenny; Bialke, Martin; Stahl, Dana; Frey, Bernadette Anna; Gläser, Selina Sophie; Ritter, Laura Aurica; Linhardt, Felix; Maag, Bärbel; Miebach, Georgia Donata Emily; Schäfer, Mirjam; Klein, Christoph; Hinske, Ludwig Christian

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

人类 COQ4 缺乏症:描述临床、代谢和神经影像学表型

Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Stei

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

对敲除小鼠和发育迟缓患者的PARP6功能进行表征

Anke Vermehren-Schmaedick,Jeffrey Y Huang,Madison Levinson,Matthew B Pomaville,Sarah Reed,Gary A Bellus,Fred Gilbert,Boris Keren,Delphine Heron,Damien Haye,Christine Janello,Christine Makowski,Katharina Danhauser,Lev M Fedorov,Tobias B Haack,Kevin M Wright,Michael S Cohen

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

双等位基因 ADPRHL2 突变导致神经退行性病变,表现为发育迟缓、共济失调和轴突神经病变

Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe, Natalia Gomez-Ospina, Melanie A Manning, Anna Kostera-Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Reka Kovács-Nagy, Mirjana Gusic, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wro

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells

通过间充质干细胞调节线粒体 NDUFS4 缺乏症中的氧化磷酸化和氧化还原稳态

Marlen Melcher, Katharina Danhauser, Annette Seibt, Özer Degistirici, Fabian Baertling, Arun Kumar Kondadi, Andreas S Reichert, Werner J H Koopman, Peter H G M Willems, Richard J Rodenburg, Ertan Mayatepek, Roland Meisel, Felix Distelmaier

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

OSTM1 和 MANEAL 基因的共存变异会导致一种复杂的神经退行性疾病,并伴有类似 NBIA 的脑部异常。

Herebian, Diran; Alhaddad, Bader; Seibt, Annette; Schwarzmayr, Thomas; Danhauser, Katharina; Klee, Dirk; Harmsen, Stefani; Meitinger, Thomas; Strom, Tim M; Schulz, Ansgar; Mayatepek, Ertan; Haack, Tobias B; Distelmaier, Felix

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

NAXE 突变会破坏细胞 NAD(P)HX 修复系统并导致儿童早期致命的神经代谢障碍

Laura S Kremer, Katharina Danhauser, Diran Herebian, Danijela Petkovic Ramadža, Dorota Piekutowska-Abramczuk, Annette Seibt, Wolfgang Müller-Felber, Tobias B Haack, Rafał Płoski, Klaus Lohmeier, Dominik Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M Strom, Thomas Meitinger, Thomas Klo

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

由 COQ9 纯合功能丧失变异引起的致命新生儿脑病和乳酸性酸中毒

Katharina Danhauser, Diran Herebian, Tobias B Haack, Richard J Rodenburg, Tim M Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier