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

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation

NBN创始人突变——癌症发病年龄存在国家特异性差异的证据

Chrzanowska, Krystyna H; Seemanova, Eva; Varon, Raymonda; Digweed, Martin; Piekutowska-Abramczuk, Dorota; Sperling, Karl; Seeman, Pavel

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4

中心粒生物发生主调控因子PLK4突变的传递比率畸变

Neitzel, Heidemarie; Varon, Raymonda; Chughtai, Sana; Dartsch, Josephine; Dutrannoy-Tönsing, Véronique; Nürnberg, Peter; Nürnberg, Gudrun; Schweiger, Michal; Digweed, Martin; Hildebrand, Gabriele; Hackmann, Karl; Holtgrewe, Manuel; Sarioglu, Nanette; Schulze, Bernt; Horn, Denise; Sperling, Karl

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA1 和 BRCA2 变异的大规模多因素似然定量分析:支持临床变异分类的 ENIGMA 资源

Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, Lidia; Aalfs, Cora M; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso-Cerezo, María Concepción; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmaña, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; Blümcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Åke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesús; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, Véronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gómez, Carolina; Gómez Garcia, Encarna B; González, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutiérrez-Enríquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Hübbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; Kaulfuß, Silke; Keupp, Katharina; Kiechle, Marion; Kölbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; López-Fernández, Adrià; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-Fernández, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; Müller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, Françoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sánchez de Abajo, Ana María; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiß, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; Teulé, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; Törngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; Tucker, Katherine M; van Asperen, Christi J; van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ángela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; Wiesmüller, Lisa; Witzel, Isabell; Wöckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-Göß, Christine; Lázaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

斯拉夫NBN创始突变:对生殖适应性有何作用?

Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan; Jarolim, Petr; Seeman, Pavel; Chrzanowska, Krystyna H; Digweed, Martin; Resnick, Igor; Kremensky, Ivo; Saar, Kathrin; Hoffmann, Katrin; Dutrannoy, Véronique; Karbasiyan, Mohsen; Ghani, Mehdi; Barić, Ivo; Tekin, Mustafa; Kovacs, Peter; Krawczak, Michael; Reis, André; Sperling, Karl; Nothnagel, Michael

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

人类 RAD50 缺乏症与尼梅亨断裂综合征类似疾病

Waltes Regina, Kalb Reinhard, Gatei Magtouf, Kijas Amanda W, Stumm Markus, Sobeck Alexandra, Wieland Britta, Varon Raymonda, Lerenthal Yaniv, Lavin Martin F, Schindler Detlev, Dörk Thilo

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

一名患有DNA连接酶IV缺陷和骨髓衰竭的患者成功接受了骨髓移植。

Gruhn, Bernd; Seidel, Joerg; Zintl, Felix; Varon, Raymonda; Tönnies, Holger; Neitzel, Heidemarie; Bechtold, Astrid; Hoehn, Holger; Schindler, Detlev