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

Recommendations for bioinformatics in clinical practice

生物信息学在临床实践中的应用建议

Lavrichenko, Ksenia; Engdal, Emilie Sofie; Marvig, Rasmus L; Jemt, Anders; Vignes, Jone Marius; Almusa, Henrikki; Saether, Kristine Bilgrav; Briem, Eiríkur; Caceres, Eva; Elvarsdóttir, Edda María; Gíslason, Magnús Halldór; Haanpää, Maria K; Henmyr, Viktor; Hotakainen, Ronja; Kaasinen, Eevi; Kanninga, Roan; Khan, Sofia; Lie-Nielsen, Mary Gertrude; Madsen, Majbritt Busk; Mähler, Niklas; Maqbool, Khurram; Neethiraj, Ramprasad; Nyrén, Karl; Paavola, Minna; Pruisscher, Peter; Sheng, Ying; Singh, Ashish Kumar; Srivastava, Aashish; Stautland, Thomas K; Andreasen, Daniel T; de Boer, Esmee Ten Berk; Vang, Søren; Wirta, Valtteri; Bagger, Frederik Otzen

An interconnected data infrastructure to support large-scale rare disease research

构建互联互通的数据基础设施,以支持大规模罕见病研究

Johansson, Lennart F; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K Joeri; Veal, Colin; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A; Brookes, Anthony J

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates

阿联酋重度高胆固醇血症患者队列中遗传性家族性高胆固醇血症的检出率较低

Rimbert, Antoine; Daggag, Hinda; Lansberg, Peter; Buckley, Adam; Viel, Martijn; Kanninga, Roan; Johansson, Lennart; Dullaart, Robin P F; Sinke, Richard; Al Tikriti, Alia; Kuivenhoven, Jan Albert; Barakat, Maha Taysir

Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants

通过检测除HLA变异体之外的非HLA变异体来提高乳糜泻风险预测的准确性

Romanos, Jihane; Rosén, Anna; Kumar, Vinod; Trynka, Gosia; Franke, Lude; Szperl, Agata; Gutierrez-Achury, Javier; van Diemen, Cleo C; Kanninga, Roan; Jankipersadsing, Soesma A; Steck, Andrea; Eisenbarth, Georges; van Heel, David A; Cukrowska, Bozena; Bruno, Valentina; Mazzilli, Maria Cristina; Núñez, Concepcion; Bilbao, Jose Ramon; Mearin, M Luisa; Barisani, Donatella; Rewers, Marian; Norris, Jill M; Ivarsson, Anneli; Boezen, H Marieke; Liu, Edwin; Wijmenga, Cisca

Novel surface display system for proteins on non-genetically modified gram-positive bacteria

一种用于非转基因革兰氏阳性菌表面蛋白质的新型表面展示系统

Bosma, Tjibbe; Kanninga, Rolf; Neef, Jolanda; Audouy, Sandrine A L; van Roosmalen, Maarten L; Steen, Anton; Buist, Girbe; Kok, Jan; Kuipers, Oscar P; Robillard, George; Leenhouts, Kees