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

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

评估基因组测序策略:罕见病诊断中的三联体、单例和标准检测

Kaschta, Daniel; Post, Christina; Gaass, Franziska; Al-Tawil, Milad; Arriens, Vincent; Balachandran, Saranya; Bäumer, Tobias; Berge, Valerie; Birgel, Friederike; Dalski, Andreas; Dittmar, Maike; Franke, Andre; Franzenburg, Sören; Fuß, Janina; Gehring, Bettina; Gembicki, Rebecca; Greiten, Bianca; Grohte, Kristin; Hanker, Britta; Händler, Kristian; Harder, Lana; Hellenbroich, Yorck; Herget, Theresia; Herrmann, Gloria; Hiort, Olaf; Hoff, Kirstin; Hoffmann, Birga; Hornig, Nadine; Hüning, Irina; Kautza-Lucht, Monika; Köhler, Juliane; Liegmann, Anna-Sophie; Lisfeld, Jasmin; Löscher, Britt-Sabina; Margraf, Nils G; Meyenborg, Michelle; Möllring, Anna; Muhle, Hiltrud; Penas, Eva Maria Murga; Nommels, Henning; Papingi, Dzhoy; Poggenburg, Imke; Pozojevic, Jelena; Rosenstiel, Philip; Recke, Andreas; Roberts, Kimberly; Rösler, Laelia; Rust, Franka; Salewski, Maj-Britt; Schau-Römer, Katharina; Schlein, Christian; Sreenivasan, Varun K A; Toutouna, Louiza; Utermann-Thüsing, Caroline; van der Ven, Amelie T; Volk, Alexander E; Wehnert, Janne; Wilson, Sandra; Woitschach, Rixa; Yumiceba, Veronica; Zühlke, Christine; Münchau, Alexander; Brüggemann, Norbert; Vater, Inga; Caliebe, Almuth; Nagel, Inga; Spielmann, Malte

Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia

一例携带DDX41种系突变且多位亲属患有白血病的家族病例报告

Wagner, Jan Nicolai; Al-Bazaz, Maximilian; Forstreuter, Anika; Hammada, Mohammad Ibrahim; Hille, Jurek; Papingi, Dzhoy; Bokemeyer, Carsten; Fiedler, Walter

Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature

患有戈林-戈尔茨综合征并伴有心脏肿瘤的兄弟姐妹:病例报告及文献综述

Wilke, Paula I; Biermann, Daniel; Grafmann, Maria; Kozlik-Feldmann, Rainer; Papingi, Dzhoy; Sachweh, Jörg S; Stute, Fridrike; Olfe, Jakob

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

迈向印记障碍多位点诊断检测共识策略的第一步

Mackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frédéric; Netchine, Irène; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Véronique; Tauber, Maithé; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tümer, Zeynep; Riccio, Andrea; Maher, Eamonn R; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas