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

The Novel HSF1 Inhibitor NXP800 Exhibits Robust Antitumor Activity in Hepatocellular Carcinoma

新型HSF1抑制剂NXP800在肝细胞癌中表现出强大的抗肿瘤活性

Steinmann, Sara M; Lazzari, Melania; Kleinle, Augustinus; Pischedda, Dora; Cigliano, Antonio; Galleri, Grazia; Siegmund, Heiko; Fischer, Claudia; Piscuoglio, Salvatore; Evert, Matthias; Calvisi, Diego F

Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics

型强直性肌营养不良症患者的 CNBP 重复扩增的最新结构及其对标准诊断的意义

Martin Wendlandt, Hannes Erdmann, Simone Rost, Morghan C Lucas, Kerstin Becker, Stephanie Kleinle, Manuela Timmer, Andrea Bier, Gilbert Wunderlich, Stephan Wenninger, Maggie C Walter, Teresa Neuhann, Benedikt Schoser, Elke Holinski-Feder, Angela Abicht

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

缩小差距 - 通过短读下一代测序检测 5q-脊髓性肌萎缩症以及诊断患者队列中的意外结果

Stephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, Tobias Wohlfrom, Stefanie Gehling, Florentine Scharf, Simone Rost, Eva-Christina Prott, Susanne Grinzinger, Anna Hotter, Verena Haug, Sabine Niemeier, Lucia Wiethoff-Ubrig, Tim Hagenacker, Klaus Goldhahn, Arpad von Moers, Maggie C Walter, Peter R

Quality assurance within the context of genome diagnostics (a german perspective)

基因组诊断中的质量保证(德国视角)

Florian, Kraft; Benet-Pagès, Anna; Berner, Daniel; Teubert, Anna; Eck, Sebastian; Arnold, Norbert; Bauer, Peter; Begemann, Matthias; Sturm, Marc; Kleinle, Stephanie; B Haack, Tobias; Eggermann, Thomas

Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

肌萎缩侧索硬化症患者出现由RFC1引起的感官神经病变:这仅仅是巧合吗?

Schoeberl, Florian; Abicht, Angela; Kuepper, Clemens; Voelk, Stefanie; Sonnenfeld, Stefan; Tonon, Matthias; Schaub, Annalisa; Scholz, Veronika; Kleinle, Stephanie; Erdmann, Hannes; Wolf, Dieter A; Reilich, Peter

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

基于HPO的虚拟基因检测:一种用于猝死分子尸检的新有效方法

Ulrike Schön ,Anna Holzer ,Andreas Laner ,Stephanie Kleinle ,Florentine Scharf ,Anna Benet-Pagès ,Oliver Peschel ,Elke Holinski-Feder ,Isabel Diebold

Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

德国经基因确诊的贝克威思-威德曼综合征患儿的癌症发病率和疾病谱:一项回顾性队列研究

Cöktü, Sümeyye; Spix, Claudia; Kaiser, Melanie; Beygo, Jasmin; Kleinle, Stephanie; Bachmann, Nadine; Kohlschmidt, Nicolai; Prawitt, Dirk; Beckmann, Alf; Klaes, Ruediger; Nevinny-Stickel-Hinzpeter, Claudia; Döhnert, Steffi; Kraus, Cornelia; Kadgien, Gundula; Vater, Inga; Biskup, Saskia; Kutsche, Michael; Kohlhase, Jürgen; Eggermann, Thomas; Zenker, Martin; Kratz, Christian P

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

阐明MT-ATP6相关疾病:从孤立性神经病变到早发性神经退行性疾病

Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Yuqing, Shi; Ganetzky, Rebecca D; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schöls, Ludger; Distelmaier, Felix; Stettner, Georg M; Büchner, Boriana; Falk, Marni J; Mayr, Johannes A; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B; Prokisch, Holger; Wortmann, Saskia B; Murayama, Kei; Fang, Fang; Klopstock, Thomas

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

线粒体DNA缺失的克隆扩增:通过单肌细胞数字液滴PCR评估不同的疾病模型

Selena Trifunov, Angela Pyle, Maria Lucia Valentino, Rocco Liguori, Patrick Yu-Wai-Man, Florence Burté, Jennifer Duff, Stephanie Kleinle, Isabel Diebold, Michela Rugolo, Rita Horvath, Valerio Carelli

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

NLRP 和其他母体效应蛋白的母系变异与子代多位点印记紊乱有关

Begemann, Matthias; Rezwan, Faisal I; Beygo, Jasmin; Docherty, Louise E; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L S; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Bich Ngoc, Can Thi; Chi Dung, Vu; Mehta, Sarju G; Baynam, Gareth; Hamilton-Shield, Julian P; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J G