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

Promoter hypomethylation drives ABCB1-mediated carfilzomib resistance in multiple myeloma

启动子低甲基化驱动多发性骨髓瘤中ABCB1介导的卡非佐米耐药性

Han, Seungbin; Haertle, Larissa; Munawar, Umair; Truger, Marietta; Hainold, Ann-Sophie; Lee, Chien-Yun; Kurian, Shilpa; Verbruggen, Christina; Nerreter, Silvia; Vogt, Cornelia; Besant, Emma; Rein, Nina; Lehmann, Johanna; Köppel, Max; Tamamushi, Yoko; Zhou, Xiang; Steinbrunn, Torsten; Haaf, Thomas; Küster, Bernhard; Slaby, Ondrej; Haferlach, Claudia; Einsele, Hermann; Rasche, Leo; Waldschmidt, Johannes; Besse, Andrej; Driessen, Christoph; Besse, Lenka; Kortüm, K Martin

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

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

rDNA Copy Number Variation and Methylation During Normal and Premature Aging

正常衰老和过早衰老过程中rDNA拷贝数变异和甲基化

Geisen, Alva B C; Santana Acevedo, Natalia; Oshima, Junko; Dittrich, Marcus; Potabattula, Ramya; Haaf, Thomas

rDNA Copy Number Variation and Methylation in Human and Mouse Sperm

人类和小鼠精子中rDNA拷贝数变异和甲基化

Potabattula, Ramya; Dittrich, Marcus; Hahn, Thomas; Schorsch, Martin; Ptak, Grazyna Ewa; Haaf, Thomas

Influence of a Th17-Inducing Cytokine Milieu on Phenotypical and Functional Properties of Regulatory T Cells in Chronic Inflammatory Arthritis

Th17诱导细胞因子环境对慢性炎症性关节炎中调节性T细胞表型和功能特性的影响

Schwarz, Tobias; Almanzar, Giovanni; Wulfheide, Marie; Woidich, Robert; Holzer, Marie-Therese; Christoforou, Timotheos; Karle, Leonie; Radtke, David; Brauneiser, Franziska; Haaf, Thomas; Potabattula, Ramya; Ortega, Gabriela; Lesch, Klaus-Peter; Schäfer, Arne; Benoit, Sandrine; Schmieder, Astrid; Goebeler, Matthias; Schmalzing, Marc; Feuchtenberger, Martin; Prelog, Martina

Sperm rDNA Copy Number and Methylation Are Associated with Male-Factor Infertility

精子rDNA拷贝数和甲基化与男性不育症相关

Michler, Alina; Kießling, Sarah; Durackova, Jana; Hahn, Thomas; Schorsch, Martin; Haaf, Thomas