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

A Case Report of Synchronous Multicentric Breast Carcinoma With Biologically Discordant Phenotypes: Luminal A and Triple-Negative Subtypes

一例生物学表型不一致的同步多中心乳腺癌病例报告:管腔A型和三阴性亚型

Gmur, Maksym K; Gajewski, Michal; Goliat, Weronika; Haraziński, Konrad; Dalski-Szelag, Przemyslaw R; Jastrzebska, Izabela; Sławińska, Barbara; Maryniak, Nicole; Sysło, Oliwia; Błecha, Zuzanna; Rubik, Nikola

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

Both mOTS-words and pOTS-words prefer emoji stimuli over text stimuli during a lexical judgment task

在词汇判断任务中,mOTS词和pOTS词都更倾向于表情符号刺激而非文本刺激。

Dalski, Alexia; Kular, Holly; Jorgensen, Julia G; Grill-Spector, Kalanit; Grotheer, Mareike

Both mOTS-words and pOTS-words prefer emoji stimuli over text stimuli during a reading task

在阅读任务中,mOTS-words 和 pOTS-words 都更倾向于使用表情符号刺激而非文本刺激。

Dalski, Alexia; Kular, Holly; Jorgensen, Julia G; Grill-Spector, Kalanit; Grotheer, Mareike

No semantic information is necessary to evoke general neural signatures of face familiarity: evidence from cross-experiment classification

无需语义信息即可唤起面孔熟悉度的一般神经特征:来自跨实验分类的证据

Dalski, Alexia; Kovács, Gyula; Ambrus, Géza Gergely

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

对两名患有科内莉亚·德·兰格综合征的患者中两个内含子NIPBL突变的鉴定和功能表征

Teresa-Rodrigo, María E; Eckhold, Juliane; Puisac, Beatriz; Pozojevic, Jelena; Parenti, Ilaria; Baquero-Montoya, Carolina; Gil-Rodríguez, María C; Braunholz, Diana; Dalski, Andreas; Hernández-Marcos, María; Ayerza, Ariadna; Bernal, María L; Ramos, Feliciano J; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Pié, Juan; Kaiser, Frank J

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

对NIPBL生理性剪接变体和Cornelia de Lange综合征患者的八种剪接突变进行功能表征

Teresa-Rodrigo, María E; Eckhold, Juliane; Puisac, Beatriz; Dalski, Andreas; Gil-Rodríguez, María C; Braunholz, Diana; Baquero, Carolina; Hernández-Marcos, María; de Karam, Juan C; Ciero, Milagros; Santos-Simarro, Fernando; Lapunzina, Pablo; Wierzba, Jolanta; Casale, César H; Ramos, Feliciano J; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J; Pié, Juan

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

导致科内莉亚·德·兰格综合征的孤立性NIBPL错义突变会改变MAU2相互作用。

Braunholz, Diana; Hullings, Melanie; Gil-Rodríguez, María Concepcion; Fincher, Christopher T; Mallozzi, Mark B; Loy, Elizabeth; Albrecht, Melanie; Kaur, Maninder; Limon, Janusz; Rampuria, Abhinav; Clark, Dinah; Kline, Antonie; Dalski, Andreas; Eckhold, Juliane; Tzschach, Andreas; Hennekam, Raoul; Gillessen-Kaesbach, Gabriele; Wierzba, Jolanta; Krantz, Ian D; Deardorff, Matthew A; Kaiser, Frank J

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

澳大利亚哮喘风险与ORMDL3、IL1RL1和17q21染色体缺失之间的关联

Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C; Braunholz, Diana; Hullings, Melanie; Gil-Rodríguez, María Concepcion; Fincher, Christopher T; Mallozzi, Mark B; Loy, Elizabeth; Albrecht, Melanie; Kaur, Maninder; Limon, Janusz; Rampuria, Abhinav; Clark, Dinah; Kline, Antonie; Dalski, Andreas; Eckhold, Juliane; Tzschach, Andreas; Hennekam, Raoul; Gillessen-Kaesbach, Gabriele; Wierzba, Jolanta; Krantz, Ian D; Deardorff, Matthew A; Kaiser, Frank J; Ferreira, Manuel A R; McRae, Allan F; Medland, Sarah E; Nyholt, Dale R; Gordon, Scott D; Wright, Margaret J; Henders, Anjali K; Madden, Pamela A; Visscher, Peter M; Wray, Naomi R; Heath, Andrew C; Montgomery, Grant W; Duffy, David L; Martin, Nicholas G

Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

脊髓小脑性共济失调17型:报告一例不稳定Gln49 TBP等位基因外显率降低的家族,单倍型分析支持不稳定等位基因的创始人效应,并对SCA17基因型进行了比较分析。

Zühlke, Christine; Dalski, Andreas; Schwinger, Eberhard; Finckh, Ulrich