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

Cefazolin-induced hemolytic anemia in septic arthritis: A case report

头孢唑林诱发脓毒性关节炎溶血性贫血:病例报告

Zafar, S Jawad; Wynne, Zachary; John, Thomas; Buzzalino, Lauren Groft; Shishido, Akira A; Riedel, David J

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

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

罕见病基本药品清单:IRDiRC罕见病治疗获取工作组的建议

Gahl, William A; Wong-Rieger, Durhane; Hivert, Virginie; Yang, Rachel; Zanello, Galliano; Groft, Stephen

The case for open science: rare diseases

开放科学的案例:罕见病

Rubinstein, Yaffa R; Robinson, Peter N; Gahl, William A; Avillach, Paul; Baynam, Gareth; Cederroth, Helene; Goodwin, Rebecca M; Groft, Stephen C; Hansson, Mats G; Harris, Nomi L; Huser, Vojtech; Mascalzoni, Deborah; McMurry, Julie A; Might, Matthew; Nellaker, Christoffer; Mons, Barend; Paltoo, Dina N; Pevsner, Jonathan; Posada, Manuel; Rockett-Frase, Alison P; Roos, Marco; Rubinstein, Tamar B; Taruscio, Domenica; van Enckevort, Esther; Haendel, Melissa A

Toll-Like Receptor 2-Tpl2-Dependent ERK Signaling Drives Inverse Interleukin 12 Regulation in Dendritic Cells and Macrophages

Toll 样受体 2-Tpl2 依赖性 ERK 信号传导驱动树突状细胞和巨噬细胞中的逆向白细胞介素 12 调节

Sarah G Groft, Nancy Nagy, W Henry Boom, Clifford V Harding

How to Advance Research, Education, and Training in the Study of Rare Diseases

如何推进罕见病研究、教育和培训

Groft, Stephen C; Gopal-Srivastava, Rashmi; Dellon, Evan S; Gupta, Sandeep K

Evaluation of O6-Benzylguanine-Potentiated Topical Carmustine for Mycosis Fungoides: A Phase 1-2 Clinical Trial

评估 O6-苄基鸟嘌呤增强的局部卡莫司汀治疗蕈样肉芽肿的疗效:一项 1-2 期临床试验

Tacastacas, Joselin D; Chan, Derek V; Carlson, Sean; Gerson, Stanton L; Dowlati, Afshin; Fu, Pingfu; Lu, Kurt; Groft, Sarah; Rosenjack, Julie; Honda, Kord; McCormick, Thomas S; Cooper, Kevin D