Rosa J Torres - Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III

基本信息

浏览量：31

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 119 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

[Lesch-Nyhan Syndrome]

R. J. Torres,J. G. Puig

Reference Module in Life Sciences（2024）

引用6浏览0WOS引用

A New Physiological Medium Uncovers Biochemical and Cellular Alterations in Lesch-Nyhan Disease Fibroblasts

Paula Escudero-Ferruz,Neus Ontiveros,Claudia Cano-Estrada,Diane J. Sutcliffe,H. A. Jinnah,Rosa J. Torres,José M. López

Molecular Medicine（2024）

引用0浏览0WOS引用

A Genome-Wide Association Analysis Reveals New Pathogenic Pathways in Gout

Tanya J. Major,Riku Takei,Hirotaka Matsuo,Megan P. Leask,Nicholas A. Sumpter,Ruth K. Topless,Yuya Shirai,Wei Wang,Murray J. Cadzow,Amanda J. Phipps-Green,Zhiqiang Li,Aichang Ji,Marilyn E. Merriman, Emily Morice,Eric E. Kelley,Wen-Hua Wei,Sally P. A. McCormick,Matthew J. Bixley,Richard J. Reynolds,Kenneth G. Saag,Tayaza Fadason, Evgenia Golovina,Justin M. O'Sullivan,Lisa K. Stamp,Nicola Dalbeth, Abhishek,Michael Doherty,Edward Roddy,Lennart T. H. Jacobsson,Meliha C. Kapetanovic,Olle Melander,Mariano Andres,Fernando Perez-Ruiz,Rosa J. Torres,Timothy Radstake,Timothy L. Jansen,Matthijs Janssen,Leo A. B. Joosten,Ruiqi Liu,Orsolya I. Gaal,Tania O. Crisan,Simona Rednic,Fina Kurreeman,Tom W. J. Huizinga,Rene Toes,Frederic Liote,Pascal Richette,Thomas Bardin,Hang Korng Ea,Tristan Pascart,Geraldine M. McCarthy,Laura Helbert,Blanka Stiburkova, Anne-K. Tausche,Till Uhlig,Veronique Vitart,Thibaud S. Boutin,Caroline Hayward,Philip L. Riches,Stuart H. Ralston,Archie Campbell,Thomas M. MacDonald,Akiyoshi Nakayama,Tappei Takada,Masahiro Nakatochi,Seiko Shimizu,Yusuke Kawamura,Yu Toyoda,Hirofumi Nakaoka,Ken Yamamoto,Keitaro Matsuo,Nariyoshi Shinomiya,Kimiyoshi Ichida,Chaeyoung Lee,Linda A. Bradbury,Matthew A. Brown,Philip C. Robinson,Russell R. C. Buchanan,Catherine L. Hill,Susan Lester,Malcolm D. Smith,Maureen Rischmueller,Hyon K. Choi,Eli A. Stahl, Jeff N. Miner,Daniel H. Solomon,Jing Cui,Kathleen M. Giacomini,Deanna J. Brackman,Eric M. Jorgenson,Hongbo Liu,Katalin Susztak,Suyash Shringarpure,Alexander So,Yukinori Okada,Changgui Li,Yongyong Shi,Tony R. Merriman

NATURE GENETICSno. 11 (2024): 2392-+

引用2浏览0WOSNATURE引用

Molecular Diagnosis of Cystic Fibrosis by RNA Obtained from Nasal Epithelial Cells

Carmen Prior-de Castro, Miguel Angel Martinez Gallego,Clara Gomez-Gonzalez, Ruben de Sancho Martin,Carlos Rodriguez-Antolin,Carmen Rodriguez-Jimenez,Angela del Pozo Mate,Ester Zamarron de Lucas,Marta Ruiz de Valbuena Maiz,Cristina de Manuel Gomez,Sergio Alcolea Batres,Maria Concepcion Prados Sanchez,Rosa J. Torres

JOURNAL OF CYSTIC FIBROSISno. 4 (2024): 788-795

引用0浏览0WOS引用

Hereditary Spastic Paraplegia Associated with a Novel Homozygous Intronic Noncanonical Splice Site Variant in the AP4B1 Gene

Clara Gomez-Gonzalez, Cristina Pizarro-Sanchez,Carlos Rodriguez-Antolin,Ignacio Pascual-Pascual,Mar Garcia-Romero,Carmen Rodriguez-Jimenez, Ruben de Sancho-Martin,Angela del Pozo-Mate,Mario Solis-Lopez,Carmen Prior-de Castro,Rosa J. Torres

ANNALS OF HUMAN GENETICS（2022）

引用1浏览0WOS引用

A Genome-Wide Association Analysis of 2,622,830 Individuals Reveals New Pathogenic Pathways in Gout

Tony Merriman,Hirotaka Matsuo,Riku Takei,Megan Leask,Ruth Topless,Yuya Shirai,Zhiqiang Li,Murray Cadzow,Richard Reynolds,Kenneth Saag,Tayaza Fadason,Justin O'Sullivan,Nicola Dalbeth,Lisa Stamp,Abhishek Abhishek,Michael Doherty,Edward Roddy,Lennart Jacobsson,Meliha Kapetanovic,Mariano Andres,Fernando Perez-Ruiz,Rosa Torres Jimenez,Timothy Radstake,Timothy Jansen,Matthijs Janssen,Leo Joosten,Tania Octavia Crisan,Tom Huizinga,Frederic Liote,Pascal Richette,Thomas Bardin,Tristan Pascart,Geraldine McCarthy,Blanka Stiburkova, Anne Tausche,Till Uhlig,Veronique Vitart,Philip Riches,Stuart Ralston,Thomas MacDonald,Akiyoshi Nakayama,Masahiro Nakatochi,Kimiyoshi Ichida,Tappei Takada,Chaeyoung Lee,Matthew Brown,Philip Robinson,Catherine Hill,Hyon Choi,Nicholas Sumpter,Marilyn Merriman,Amanda Phipps-Green,Wenhua Wei,Sally McCormick,Olle Melander,Rene Toes,Hang-Korng Ea,Fina Kurreeman,Laura Helbert,Thibaud Boutin,Nariyoshi Shinomiya,Linda Bradbury,Russell Buchanan,Susan Lester,Malcolm Smith,Maureen Rischmueller,Eli Stahl, Jeff Miner,Daniel Solomon,Jing Cui,Kathleen Giacomini,Deanna Brackman,Eric Jorgenson,Suyash Shringapure,Alexander So,Yukinori Okada,Changgui Li,Yongyong Shi,Tanya Major

ARTHRITIS & RHEUMATOLOGY（2022）

引用8浏览0引用

Symptomatic Heterozygous X-Linked Myotubular Myopathy Female Patient with a Large Deletion at Xq28 and Decrease Expression of Normal Allele

Clara Gomez-Gonzalez,Rocio Rosas-Alonso,Carlos Rodriguez-Antolin,Alvaro Garcia-Guede,Inmaculada Ibanez de Caceres,Javier Sanguino,Samuel I. Pascual,Isabel Esteban,Angela del Pozo,Maria Angeles Mori,Rosa J. Torres,Carmen Prior

European Journal of Medical Genetics（2021）

引用2浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn