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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures

染色质病:临床表现重叠的疾病,揭示新的变异及其DNA甲基化特征

Koparir, Asuman; Kerkhof, Jennifer; Rzasa, Jessica; Metzger, Eva; Bahena Carbajal, Paulina; Kolokotronis, Konstantinos; Koparir, Erkan; Jelting, Yvonne; Hofrichter, Michaela A H; Klepper, Jörg; König, Thomas; Runkel, Eva; Prastyo, Wahyu Eka; Deinlein, Jonas; Dragicevic Babic, Neda; Spiegler, Juliane; Stachelscheid, Nicole; Kunstmann, Erdmute; Haaf, Thomas; Sadikovic, Bekim; Klopocki, Eva

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window

EPS8L2 (DFNB106) 相关性听力损失的分子和临床方面的研究拓展,凸显了潜在的治疗窗口

Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A H; Maroofian, Reza; Varshney, Gaurav K; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

FRMPD4是导致智力障碍和癫痫的致病基因,也与X连锁非综合征性听力损失有关。

Liedtke, Daniel; Rak, Kristen; Schrode, Katrina M; Hehlert, Philip; Chamanrou, Niloofar; Bengl, Daniel; Katana, Radoslaw; Heydaran, Soganad; Doll, Julia; Han, Mei; Nanda, Indrajit; Senthilan, Pingkalai R; Jürgens, Lukas; Bieniussa, Linda; Voelker, Johannes; Neuner, Cordula; Hofrichter, Michaela Ah; Schröder, Jörg; Schellens, Renske T W; de Vrieze, Erik; van Wijk, Erwin; Zechner, Ulrich; Herms, Stefan; Hoffmann, Per; Müller, Tobias; Dittrich, Marcus; Bartsch, Oliver; Krawitz, Peter M; Klopocki, Eva; Shehata-Dieler, Wafaa; Maroofian, Reza; Wang, Tao; Worley, Paul F; Göpfert, Martin C; Galehdari, Hamid; Lauer, Amanda M; Haaf, Thomas; Vona, Barbara

Illuminating ecology and distribution of the rare fungus Phellinidium pouzarii in the Bavarian Forest National Park

揭示巴伐利亚森林国家公园内珍稀真菌 Phellinidium pouzarii 的生态和分布

Roy, Friederike; Baumann, Philipp; Ullrich, René; Moll, Julia; Bässler, Claus; Hofrichter, Martin; Kellner, Harald

Conductive Hairy Particles With Homogeneous and Janus Design as Carrier Materials for the Efficient Immobilization of Unspecific Peroxygenases

具有均质和 Janus 设计的导电毛状颗粒作为载体材料,用于高效固定非特异性过氧化酶

Karich, Alexander; Cai, Hongtao; Linhardt, Anne; Antony, Anila; Liers, Christiane; Ullrich, René; Schwaderer, Fabian; Kalmbach, Johannes; Scheibner, Katrin; Hofrichter, Martin; Synytska, Alla

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

全基因组测序作为一种强大的听力损失诊断工具,揭示了全外显子组测序遗漏的PTPRQ基因新变异。

Bengl, Daniel; Koparir, Asuman; Prastyo, Wahyu Eka; Remmele, Christian; Dittrich, Marcus; Flandin, Sophie; Shehata-Dieler, Waafa; Grimm, Clemens; Haaf, Thomas; Hofrichter, Michaela A H

Enzymatic machinery of wood-inhabiting fungi that degrade temperate tree species

腐朽真菌的酶促机制能够降解温带树种

Kipping, Lydia; Jehmlich, Nico; Moll, Julia; Noll, Matthias; Gossner, Martin M; Van Den Bossche, Tim; Edelmann, Pascal; Borken, Werner; Hofrichter, Martin; Kellner, Harald

The Utility of Miniaturized Adsorbers in Exploring the Cellular and Molecular Effects of Blood Purification: A Pilot Study with a Focus on Immunoadsorption in Multiple Sclerosis

微型吸附器在探索血液净化对细胞和分子的影响中的应用:一项以多发性硬化症免疫吸附为重点的初步研究

Körtge, Andreas; Breitrück, Anne; Doß, Sandra; Hofrichter, Jacqueline; Nelz, Sophie-Charlotte; Krüsemann, Horst; Wasserkort, Reinhold; Fitzner, Brit; Hecker, Michael; Mitzner, Steffen; Zettl, Uwe Klaus

Structural Insights and Reaction Profile of a New Unspecific Peroxygenase from Marasmius wettsteinii Produced in a Tandem-Yeast Expression System

利用串联酵母表达系统对韦氏小球藻(Marasmius wettsteinii)中一种新型非特异性过氧化酶的结构解析和反应特性进行研究

Sánchez-Moreno, Israel; Fernandez-Garcia, Angela; Mateljak, Ivan; Gomez de Santos, Patricia; Hofrichter, Martin; Kellner, Harald; Sanz-Aparicio, Julia; Alcalde, Miguel