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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

De novo variants in ATP2B1 lead to neurodevelopmental delay

ATP2B1基因的新生突变会导致神经发育迟缓

Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Jamra, Rami Abou; Oppermann, Henry

In Vitro Assessment of the Potential Effect of Vertical Peri-Implant Soft Tissue Thickness on Nonsurgical and Surgical Implant Surface Decontamination Methods

体外评估垂直种植体周围软组织厚度对非手术和手术种植体表面去污方法的潜在影响

Rahner, Annika; Eickholz, Peter; Gueth, Jan-Frederik; Zahn, Tuǧba; Dahmer, Iulia; Petsos, Hari

Modulatory effects of T-cell immunosuppression on pigeon protozoal encephalitis induced by Sarcocystis calchasi

T细胞免疫抑制对卡氏肉孢子虫引起的鸽子原虫性脑炎的调节作用

Nemitz, Saskia; Gruber, Achim D; Britzke, Tobias; Voss, Anne; Rahner, Ronja; Büttner, Kathrin; Schaubmar, Andreas R; Lierz, Michael; Maier-Sam, Kristina

Circulation dynamics of West Nile virus in Germany, 2023 and 2024

2023年和2024年德国西尼罗河病毒的传播动态

Schwarzer, Anne; Schopf, Franziska; Groschup, Martin H; Bock, Sabine; Heenemann, Kristin; Herms, Louise; Himmelreich, Anke; Kenklies, Susanne; Kilwinski, Jochen; Konrath, Andrea; Michel, Friederike; Müller, Kerstin; Priemer, Grit; Rahner, Ronja; Sauerwald, Claudia; Scuda, Nelly; Siempelkamp, Timo; Skuballa, Jasmin; Wonnemann, Hubert; Keller, Markus; Vahlenkamp, Thomas W; Ziegler, Ute; Sadeghi, Balal

Predicting Response to Switching From Phosphodiesterase Type 5 Inhibitor to Riociguat in Patients With Pulmonary Arterial Hypertension: Biomarker and Responder Analysis of the RESPITE and REPLACE Studies

预测肺动脉高压患者从磷酸二酯酶 5 型抑制剂转换为利奥西呱治疗的反应:RESPITE 和 REPLACE 研究的生物标志物和反应者分析

Klinger, James R; Al-Hiti, Hikmet; Chang, Sung-A; Chang, Hyuk J; Ghofrani, Hossein-Ardeschir; Grünig, Ekkehard; Hoeper, Marius M; Jansa, Pavel; Ota-Arakaki, Jaquelina; Pulido, Tomas; Simonneau, Gérald; Vizza, Carmine Dario; Rahner, Claudia; Meier, Christian; Meyer, Gisela

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)

CSF1R 中的新变异与成人发病的轴突球体和色素胶质细胞白质脑病 (ALSP) 有关

Anne S Schmitz, Janani Raju, Wolfgang Köhler, Stephan Klebe, Khaled Cheheb, Franziska Reschke, Saskia Biskup, Tobias B Haack, Benjamin Roeben, Melanie Kellner, Nils Rahner, Thomas Bloch, Johannes Lemke, Benjamin Bender, Ludger Schöls, Holger Hengel, Stefanie N Hayer

The neuroepithelial origin of ovarian carcinomas explained through an epithelial-mesenchymal-ectodermal transition enhanced by cisplatin

顺铂增强的上皮-间质-外胚层转化解释了卵巢癌的神经上皮起源

Díaz-Carballo, David; Safoor, Ayesha; Saka, Sahitya; Noa-Bolaño, Adrien; D'Souza, Flevy; Klein, Jacqueline; Acikelli, Ali H; Malak, Sascha; Rahner, Udo; Turki, Amin T; Höppner, Anne; Kamitz, Annabelle; Song, Wanlu; Chen, Ye-Guang; Kamada, Lalitha; Tannapfel, Andrea; Brinkmann, Sebastian; Ochsenfarth, Crista; Strumberg, Dirk

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

携带致病性错配修复基因变异并接受早期癌症诊断和治疗监测的患者的年龄、基因和性别死亡率:来自前瞻性林奇综合征数据库的报告

Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T; Sampson, Julian R; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Dębniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior H; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane; Buchanan, Daniel D; Thibodeau, Stephen N; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, Silke; Büttner, Reinhard; Weitz, Jürgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sánchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; Ten Broeke, Sanne W; Kariv, Revital; Rosner, Guy; Advani, Suresh H; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pål