Literature DB >> 28796211

Medical research: Next decade's goals for rare diseases.

Christopher P Austin1, Hugh J S Dawkins2.   

Abstract

Mesh：

Year:  2017        PMID： 28796211     DOI： 10.1038/548158c

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  1 in total

1.  Rare-disease project has global ambitions.

Authors:  Alison Abbott
Journal:  Nature       Date:  2011-04-07       Impact factor: 49.962
  1 in total
  6 in total

1.  SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

Authors:  Estrella López-Martín; Beatriz Martínez-Delgado; Eva Bermejo-Sánchez; Javier Alonso; Manuel Posada
Journal:  Int J Environ Res Public Health       Date:  2018-08-14       Impact factor: 3.390

2.  Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.

Authors:  Yuji Takahashi; Hidetoshi Date; Hideki Oi; Takeya Adachi; Noriaki Imanishi; En Kimura; Hotake Takizawa; Shinji Kosugi; Naomichi Matsumoto; Kenjiro Kosaki; Yoichi Matsubara; Hidehiro Mizusawa
Journal:  J Hum Genet       Date:  2022-03-23       Impact factor: 3.755

3.  Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.

Authors:  Marco Salvatore; Agata Polizzi; Maria Chiara De Stefano; Giovanna Floridia; Simone Baldovino; Dario Roccatello; Savino Sciascia; Elisa Menegatti; Giuseppe Remuzzi; Erica Daina; Paraskevas Iatropoulos; Bruno Bembi; Rosalia Maria Da Riol; Alessandra Ferlini; Marcella Neri; Giuseppe Novelli; Federica Sangiuolo; Francesco Brancati; Domenica Taruscio
Journal:  Ital J Pediatr       Date:  2020-09-14       Impact factor: 2.638

4.  Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos.

Authors:  Yanting Zeng; Jianan Li; Guanglei Li; Shisheng Huang; Wenxia Yu; Yu Zhang; Dunjin Chen; Jia Chen; Jianqiao Liu; Xingxu Huang
Journal:  Mol Ther       Date:  2018-08-14       Impact factor: 11.454

5.  Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD).

Authors:  Takeya Adachi; Noriaki Imanishi; Yasushi Ogawa; Yoshihiko Furusawa; Yoshihiko Izumida; Yoko Izumi; Makoto Suematsu
Journal:  Orphanet J Rare Dis       Date:  2018-11-20       Impact factor: 4.123

6.  Editorial: New Insights Into the Landscape of Rare Tumors: Translational and Clinical Research Perspective.

Authors:  Alessandro De Vita; Alberto Bongiovanni; Jean-Yves Blay; Toni Ibrahim
Journal:  Front Oncol       Date:  2020-10-29       Impact factor: 6.244
  6 in total

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