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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Polygenic Risk Scores of COPD Predict Lung Function Decline and Early COPD: Results from COSYCONET

COPD多基因风险评分可预测肺功能下降和早期COPD:来自COSYCONET的研究结果

Pott, Hendrik; Martin, Roman; Köbbe, Laura; Maj, Carlo; Abdo, Mustafa; Hinz, Lennard; Klinkhammer, Hannah; Bertrams, Wilhelm; Mattutat, Johann; Kutzinski, Max; Weckler, Barbara C; Alter, Peter; Biertz, Frank; Speicher, Tim; Jung, Anna Lena; Laakmann, Katrin; Lehmann, Mareike; Mayr, Andreas; Vogelmeier, Claus F; Heider, Dominik; Schumacher, Johannes; Schmeck, Bernd

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

Treatment of retroperitoneal sarcoma in Germany between 2000 and 2022: a retrospective analysis from the German Cancer Registry Group

德国2000年至2022年间腹膜后肉瘤的治疗:德国癌症登记组的回顾性分析

Beck, Nikola; Goßmann, Frank; Hohenberger, Peter; Kasper, Bernd; Menge, Franka; Deinzer, Christoph K W; Franke, Bianca; Hendricks, Anne; Klinkhammer-Schalke, Monika; Rausch, Katharina; Reinwald, Fabian; Robers, Gabriele; Kim-Wanner, Soo-Zin; Schneider, Constanze; Wiegering, Armin; Sabet-Rashedi, Manije; Zeissig, Sylke Ruth; Jakob, Jens

Acute Urinary Retention and Guillain-Barré Syndrome: A Zebra or a Horse

急性尿潴留与格林-巴利综合征:斑马还是马?

Klinkhammer, Martin; Kaur, Navjot; Wyant, James

Locoregional Breast Cancer Recurrences After Ablatio Mammae and Primary Reconstruction

乳房切除术和原位重建术后局部区域性乳腺癌复发

Valette, Constance; Anker, Alexandra; Gerken, Michael; Seitz, Stephan; Klinkhammer-Schalke, Monika; Eisenmann, Silvan; Ruewe, Marc; Unbehaun, Philipp; Prantl, Lukas; Brébant, Vanessa

The effects of certification of head and neck cancer centers on the survival of patients with a head and neck cancer

头颈癌认证的影响主要体现在头颈癌患者的生存率上。

Schoffer, Olaf; Kemper, Max; Gerken, Michael; Bierbaum, Veronika; Bobeth, Christoph; Rößler, Martin; Dröge, Patrik; Ruhnke, Thomas; Günster, Christian; Kleihues-van Tol, Kees; Busch, Chia-Jung; Klinkhammer-Schalke, Monika; Schmitt, Jochen

Supplementary biomarker testing in molecular tumor boards increases actionable therapy recommendations: a prospective real-world study of 658 patients

在分子肿瘤委员会中进行补充生物标志物检测可提高可操作治疗建议的有效性:一项纳入 658 例患者的前瞻性真实世界研究

Scheiter, Alexander; Mellin, Simon; Keil, Felix; Meier, Johannes; Heudobler, Daniel; Brummer, Christina; Einhell, Sabine; Zwicker, Benjamin; Wutzlhofer, Elena; Hierl, Frederik; Klemm, Sophie; Lüftl, Elena; Schneider, Tom; Perl, Markus; Klier-Richter, Margit; Immel, Alexander; Kaltofen, Till; Grube, Matthias; Bumes, Elisabeth; Seitz, Stephan; Schulz, Christian; Haferkamp, Sebastian; Drexler, Konstantin; Troeger, Anja; Steger, Felix; Schlosser-Hupf, Sophie; Tews, Hauke Christian; Kandulski, Arne; Wohlfart, Kristina; Erber, Ramona; Schönbuchner, Ines; Lessel, Davor; Schnabel, Marco J; Sedlmeier, Anja M; Klinkhammer-Schalke, Monika; Maurer, Julia; Calvisi, Diego F; Pukrop, Tobias; Kaiser, Ulrich; Hirsch, Daniela; Dietmaier, Wolfgang; Evert, Matthias; Lüke, Florian; Utpatel, Kirsten

Prognostic factors for lymph node infestation, long-term survival and recurrence rates in patients with vaginal cancer: a population-based study in Germany

德国一项基于人群的研究探讨了阴道癌患者淋巴结转移、长期生存率和复发率的预后因素。

Wenning, Shirin; Gerken, Michael; Papathemelis, Thomas; Ortmann, Olaf; Franke, Bianca; Wittenberg, Ian; Walter, Christina; Schneider, Constanze; Sackmann, Andrea; Zeissig, Sylke Ruth; Reinwald, Fabian; Rath, Natalie; Weitmann, Kerstin; Müller-Nordhorn, Jacqueline; Herr, Caroline; Klinkhammer-Schalke, Monika; Marnitz, Simone; Sturm-Inwald, Elisabeth Christine

Treatment Regimens and Response Rates in Early TNBC: A Review of Real-World Practice in the Second Decade of the 21st Century

早期三阴性乳腺癌的治疗方案和反应率:21世纪第二个十年真实世界实践的回顾

Hatzipanagiotou, Maria Eleni; Tannert, Verena; Gerken, Michael; Pigerl, Miriam; Räpple, Sophie; Roth, Jonas; Klinkhammer-Schalke, Monika; Ortmann, Olaf; Seitz, Stephan