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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

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第一作者： Sunayna,Best

第一单位： Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK.;Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

作者： Sunayna,Best ^[1] ; Jenny,Lord ^[2] ; Matthew,Roche ^[3] ; Christopher M,Watson ^[4] ; James A,Poulter ^[5] ; Roel P J,Bevers ^[6] ; Alex,Stuckey ^[6] ; Katarzyna,Szymanska ^[5] ; Jamie M,Ellingford ^[7] ; Jenny,Carmichael ^[8] ; Helen,Brittain ^[6] ; Carmel,Toomes ^[5] ; Chris,Inglehearn ^[5] ; Colin A,Johnson ^[5] ; Gabrielle,Wheway ^[9] ; Genomics England Research Consortium

作者单位： Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK.;Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds, UK. ^[1] Department of Human Development and Health, University of Southampton Faculty of Medicine, Southampton, UK.;University Hospital Southampton NHS Foundation Trust, Southampton, UK. ^[2] Mid Yorkshire Hospitals NHS Trust, Wakefield, UK. ^[3] Department of Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, West Yorkshire, UK.;School of Medicine, University of Leeds, Leeds, UK. ^[4] Division of Molecular Medicine, University of Leeds Leeds Institute of Medical Research at St James's, Leeds, West Yorkshire, UK. ^[5] Genomics England, Queen Mary University of London, London, UK. ^[6] Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, Manchester, UK. ^[7] East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK. ^[8] Department of Human Development and Health, University of Southampton Faculty of Medicine, Southampton, UK g.wheway@soton.ac.uk.;Southampton University Hospitals NHS Trust, Southampton, UK. ^[9]

关键词 and neonatal diseases and abnormalities congenital diagnosis genetics genomics hereditary medical

医学主题词畸形, 多发性(Abnormalities, Multiple);眼畸形(Eye Abnormalities);人类(Humans);肾疾病, 囊性(Kidney Diseases, Cystic);表型(Phenotype);公费医疗(State Medicine)

DOI 10.1136/jmedgenet-2021-108065

PMID 34716235

发布时间 2025-05-30

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