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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Automated high-throughput selection of DNA aptamers using a common optical next-generation sequencer

利用通用光学二代测序仪实现DNA适体的自动化高通量筛选

Drees, Alissa; Ahlers, Christian; Kehrer, Timothy; Ehmke, Natascha; Grün, Alice Frederike Rosa; Uetrecht, Charlotte; Ignatova, Zoya; Schumacher, Udo; Fischer, Markus

Oncofetal chondroitin sulfate positive circulating tumor cells as prognostic biomarkers in early-stage melanoma

癌胚性硫酸软骨素阳性循环肿瘤细胞作为早期黑色素瘤的预后生物标志物

Sunzenauer, Judith; Rammer, Melanie; Stöckl, Leonhard; Lugmayr, Lisa; Binder, Viktoria; Strauss, Eva; Priglinger, Katharina; Pernsteiner, Victoria; Kehrer, Helmut; Theander, Thor Grundtvig; Schröcksnadel, Peter; Webersinke, Gerald; Salanti, Ali; Agerbæk, Mette Ørskov; Sepp, Norbert

Rewiring faces: advances and outcomes in facial nerve reconstruction after facial vascularized composite allotransplantation

重塑面容:面部血管化复合组织移植后面神经重建的进展与结果

Knoedler, Leonard; Niederegger, Tobias; Munzinger, Robert; Joshi, Surbhi; Schaschinger, Thomas; Cetrulo, Curtis L Jr; Festbaum, Christian; Kehrer, Andreas; Hundeshagen, Gabriel; Heiland, Max; Koerdt, Steffen; Neckel, Norbert; Voss, Jan O; Lellouch, Alexandre G

Epidemiological and Economic Factors in Facelift Surgery in the USA: A Retrospective Multi-center Analysis

美国面部拉皮手术的流行病学和经济因素:一项回顾性多中心分析

Knoedler, Leonard; Lellouch, Alexandre G; Aguglia, Raffaele; Sadati, Kevin; Knoedler, Samuel; Kehrer, Andreas; Cetrulo, Curtis L; Rendenbach, Carsten; Heiland, Max; Fenske, Jakob

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Liquid Biopsy-Multiomics Link Adhesion Pathway Dysregulation to Kidney Injury Severity

液体活检-多组学将黏附通路失调与肾损伤严重程度联系起来

Anandakrishnan, Nanditha; Yi, Zhengzi; Sun, Zeguo; Liu, Tong; Haydak, Jonathan; Eddy, Sean; Jayaraman, Pushkala; DeFronzo, Stefanie; Saha, Aparna; Sun, Qian; Yang, Dai; Mendoza, Anthony; Mosoyan, Gohar; Wen, Huei Hsun; Fu, Jia; Kehrer, Thomas; Menon, Rajasree; Otto, Edgar A; Godfrey, Bradley; Yang, Joanna; Suarez-Farinas, Mayte; Leffters, Sean; Twumasi, Akosua; Meliambro, Kristin; Charney, Alexander W; García-Sastre, Adolfo; Campbell, Kirk N; Gusella, G Luca; He, John Cijiang; Miorin, Lisa; Nadkarni, Girish N; Wisnivesky, Juan; Li, Hong; Kretzler, Matthias; Coca, Steve G; Chan, Lili; Zhang, Weijia; Azeloglu, Evren U

Diagnosing facial synkinesis using artificial intelligence to advance facial palsy care

利用人工智能诊断面部联带运动以推进面瘫治疗

Knoedler, Leonard; Festbaum, Christian; Dean, Jillian; Baecher, Helena; de Lambertye, Grégoire; Maul, Maximilian; Schaschinger, Thomas; Niederegger, Tobias; Scheiflinger, Alexandra; Alfertshofer, Michael; Sherwani, Khalil; Steffen, Claudius; Heiland, Max; Koerdt, Steffen; Knoedler, Samuel; Kehrer, Andreas

Contact Dynamics of Cytoadhering Plasmodium falciparum-Infected Erythrocytes in Flow

流动中细胞黏附的恶性疟原虫感染红细胞的接触动力学

Scholz, Katharina; Papagrigorakes, Marianne; Lettermann, Leon; Pennarola, Federica; Patra, Pintu; Dasanna, Anil Kumar; Sanchez, Cecilia P; Kehrer, Jessica; Cavalcanti-Adam, Elisabetta Ada; Schwarz, Ulrich S; Tanaka, Motomu; Lanzer, Michael

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany

德国异染性脑白质营养不良患儿的医疗保健利用情况和疾病负担

Kehrer, Christiane; Bevot, Andrea; Martin, Pascal; Raabe, Christa; Gregor, Saskia; Krägeloh-Mann, Ingeborg; Groeschel, Samuel