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

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Selective Ion Binding and Uptake Shape the Microenvironment of Biomolecular Condensates

选择性离子结合和吸收塑造生物分子凝聚体的微环境

Smokers, Iris B A; Lavagna, Enrico; Freire, Rafael V M; Paloni, Matteo; Voets, Ilja K; Barducci, Alessandro; White, Paul B; Khajehpour, Mazdak; Spruijt, Evan

Quantification of Biomolecular Condensate Volume Reveals Network Swelling and Dissolution Regimes during Phase Transition

生物分子凝聚体体积的定量分析揭示了相变过程中网络溶胀和溶解机制

Smokers, Iris B A; Spruijt, Evan

National Adoption of World Health Organization Recommendations on Calcium Supplementation During Pregnancy

各国采纳世界卫生组织关于孕期补充钙的建议

Romero, Iris B; Puchulu, María Bernardita; Perez, Surya M; White, Cintia; Rana, Ziaul Hasan; Bourassa, Megan W; Delgado, Camila; Belizán, José M; Salva, Florencia; Cormick, Gabriela

A Multi-site, longitudinal investigation of emerging adult mental health across multiple stages of the COVID-19 pandemic

一项针对新冠疫情多个阶段的新兴成年人心理健康的多中心纵向研究

Young, Gerald; Mauss, Iris B; Jopling, Ellen; LeMoult, Joelle; Borelli, Jessica L; Nusslock, Robin; Ibonie, Stevi G; Villanueva, Cynthia M; Gruber, June

Testing Models of Resilience in University Students: A Multi-Site Study

大学生韧性模型检验:一项多中心研究

Jopling, Ellen; Jameson, Taylyn; Ibonie, Stevi G; Young, Gerald; Mauss, Iris B; Alloy, Lauren B; Borelli, Jessica L; Bullock, Ben; Holley, Sarah R; Kamble, Shanmukh; Mason, Liam; Moriarity, Daniel P; Nusslock, Robin; Okuma, Amie; Rutledge, Robb B; Strauss, Gregory P; Villanueva, Cynthia M; Gruber, June; LeMoult, Joelle

A Prebiotic Precursor to Life's Phosphate Transfer System with an ATP Analog and Histidyl Peptide Organocatalysts

含有ATP类似物和组氨酰肽有机催化剂的生命磷酸转移系统的益生元前体

Maguire, Oliver R; Smokers, Iris B A; Oosterom, Bob G; Zheliezniak, Alla; Huck, Wilhelm T S

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4

利用单个 U7snRNA 载体递送多个 AON 以恢复 ABCA4 剪接缺陷的概念验证

Suárez-Herrera, Nuria; Riswick, Iris B; Vázquez-Domínguez, Irene; Duijkers, Lonneke; Karjosukarso, Dyah W; Piccolo, Davide; Bauwens, Miriam; De Baere, Elfride; Cheetham, Michael E; Garanto, Alejandro; Collin, Rob W J

Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

CDH1 及其下游调控序列的共同缺失导致早发性弥漫性胃癌,并增加遗传性弥漫性胃癌的渗透性

Celina São José #, José Garcia-Pelaez #, Marta Ferreira, Oscar Arrieta, Ana André, Nelson Martins, Samantha Solís, Braulio Martínez-Benítez, María Luisa Ordóñez-Sánchez, Maribel Rodríguez-Torres, Anna K Sommer, Iris B A W Te Paske, Carlos Caldas, Marc Tischkowitz, Maria Teresa Tusié; Solve-RD DITF-G