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

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions

罕见病综合研究与创新战略。来自为期五年的欧洲罕见病联合项目的洞见,包括为未来行动提供建议的分析。

Sánchez-González, María Del Carmen; Sarmiento-Suárez, Rodrigo; Cellai, Laura Lee; Moreau, Clément; Bartoszewicz, Marcin; Fiedor, Piotr; Taruscio, Domenica; de Santis, Marta; Posada de la Paz, Manuel; Julkowska, Daria; Carta, Claudio; Bermejo-Sánchez, Eva

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

The impact of indoor air pollution on children's health and well-being: the experts' consensus

室内空气污染对儿童健康和福祉的影响:专家共识

Bozzola, Elena; Agostiniani, Rino; Pacifici Noja, Laura; Park, Jibin; Lauriola, Paolo; Nicoletti, Tiziana; Taruscio, Domenica; Taruscio, Giovanni; Mantovani, Alberto

The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form

意大利囊性纤维化汗液氯化物检测外部质量评估项目:CFTR调节剂及新汗液检测报告表的影响

Cirilli, Natalia; Floridia, Giovanna; Amato, Annalisa; Padoan, Rita; Censi, Federica; Ferrari, Gianluca; Raia, Valeria; Castaldo, Giuseppe; Capoluongo, Ettore; Taruscio, Domenica; Salvatore, Marco

The Italian registry for patients with Prader-Willi syndrome

意大利普拉德-威利综合征患者登记处

Salvatore, Marco; Torreri, Paola; Grugni, Graziano; Rocchetti, Adele; Maghnie, Mohamad; Patti, Giuseppa; Crinò, Antonino; Elia, Maurizio; Greco, Donatella; Romano, Corrado; Franzese, Adriana; Mozzillo, Enza; Colao, Annamaria; Pugliese, Gabriella; Pagotto, Uberto; Lo Preiato, Valentina; Scarano, Emanuela; Schiavariello, Concetta; Tornese, Gianluca; Fintini, Danilo; Bocchini, Sarah; Osimani, Sara; De Sanctis, Luisa; Sacco, Michele; Rutigliano, Irene; Delvecchio, Maurizio; Faienza, Maria Felicia; Wasniewska, Malgorzata; Corica, Domenico; Stagi, Stefano; Guazzarotti, Laura; Maffei, Pietro; Dassie, Francesca; Taruscio, Domenica

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

迈向罕见病临床研究网络国际互操作性:IRDiRC工作组的建议

Nabbout, Rima; Zanello, Galliano; Baker, Dixie; Black, Lora; Brambilla, Isabella; Buske, Orion J; Conklin, Laurie S; Davies, Elin Haf; Julkowska, Daria; Kim, Yeonju; Klopstock, Thomas; Nakamura, Harumasa; Nielsen, Kim G; Pariser, Anne R; Pastor, Jose Carlos; Scarpa, Maurizio; Smith, Maureen; Taruscio, Domenica; Groft, Stephen

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

参与未确诊疾病网络国际组织的国家未满足的需求:一项考虑国家医疗保健和经济指标的国际调查

Sciascia, Savino; Roccatello, Dario; Salvatore, Marco; Carta, Claudio; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimè; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

未确诊疾病:参与国际未确诊疾病网络的20个国家的需求与机遇

Taruscio, Domenica; Salvatore, Marco; Lumaka, Aimè; Carta, Claudio; Cellai, Laura L; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project

临床网络中罕见内分泌疾病的电子报告:EuRRECa 项目的结果

Ali, S R; Bryce, J; Priego-Zurita, A L; Cherenko, M; Smythe, C; de Rooij, T M; Cools, M; Danne, T; Katugampola, H; Dekkers, O M; Hiort, O; Linglart, A; Netchine, I; Nordenstrom, A; Attila, P; Persani, L; Reisch, N; Smyth, A; Sumnik, Z; Taruscio, D; Visser, W E; Pereira, A M; Appelman-Dijkstra, N M; Ahmed, S F