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收藏TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care projectTREAT:Screen4Care项目框架下的基因组新生儿筛查基因的系统性及包容性选择流程
Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd
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收藏The modernisation of newborn screening as a pan-European challenge - An international delphi study
Gillner, Sandra; Gumus, Gulcin; Gross, Edith; Iskrov, Georgi; Raycheva, Ralitsa; Stefanov, Georgi; Stefanov, Rumen; Chalandon, Anne-Sophie; Granados, Alicia; Nami, Julian; Clemens, Andreas; Blankartab, Carl Rudolf
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收藏Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study欧洲罕见疾病参考网络准备好接受机器学习了吗?一项混合研究方法研究
Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Gillner, Sandra; Blankart, Carl Rudolf; Gross, Edith Sky; Gumus, Gulcin; Mitova, Elena; Stefanov, Stefan; Stefanov, Georgi; Stefanov, Rumen
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收藏Towards Achieving Equity and Innovation in Newborn Screening across Europe
Sikonja, Jaka; Groselj, Urh; Scarpa, Maurizio; la Marca, Giancarlo; Cheillan, David; Koelker, Stefan; Zetterstrom, Rolf H.; Kozich, Viktor; Le Cam, Yann; Gumus, Gulcin; Bottarelli, Valentina; van der Burg, Mirjam; Dekkers, Eugenie; Battelino, Tadej; Prevot, Johan; Schielen, Peter C. J., I; Bonham, James R.
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收藏Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (Jun, 10.1038/s41431-021-00859-0, 2021)
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schule, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm
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收藏Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schuele, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm
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收藏A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (vol 15, 206, 2020)
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Reinhard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele
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收藏A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Atalaia, Antonio; Thompson, Rachel; Corvo, Alberto; Carmody, Leigh; Piscia, Davide; Matalonga, Leslie; Macaya, Alfons; Lochmuller, Angela; Fontaine, Bertrand; Zurek, Birte; Hernandez-Ferrer, Carles; Rheinard, Carola; Gomez-Andres, David; Desaphy, Jean-Francois; Schon, Katherine; Lohmann, Katja; Jennings, Matthew J.; Synofzik, Matthis; Riess, Olaf; Ben Yaou, Rabah; Evangelista, Teresinha; Ratnaike, Thiloka; Bros-Facer, Virginie; Gumus, Gulcin; Horvath, Rita; Chinnery, Patrick; Laurie, Steven; Graessner, Holm; Robinson, Peter; Lochmuller, Hanns; Beltran, Sergi; Bonne, Gisele
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