By health condition
By demographic
Each summary is provided by the external research team. The views expressed may not reflect those of the NIHR BioResource.
We’ve also created a few study collections:
Studies 1-9 of 17
RNA phenotyping in Ataxia telangiectasia
Speciality areaNeurological Disorders, Genomics and Rare Diseases
Study typeParticipant re-contact
Researcher typeAcademic
Research leadRita Horvath and Anke Hensiek
Molecular mechanisms of Neuroferritinopathy
Research leadPatrick Chinnery
Applying transcriptomic data to identify novel genes and disease clusters in congenital neutropenia
Speciality areaGenomics and Rare Diseases, Haematology
Research leadSarah Westbury
RNA phenotyping in C3 glomerulopathy
Speciality areaKidney Disorders, Genomics and Rare Diseases
Research leadDaniel Gale
Identification of novel genetic causes of ocular maldevelopment
Speciality areaGenomics and Rare Diseases
Research leadMariya Moosajee
RNA phenotyping in blood cell autoimmunity
Research leadNichola Cooper
RNA phenotyping in primary biliary cholangitis
Speciality areaGenomics and Rare Diseases, Liver
Research leadGeorge Mells
Very early Intervention through RNA analysis on Leukocytes in Scleroderma
Research leadFrancesco Del Galdo
The leukocyte RNA imprint of splicing-factor retinitis pigmentosa
Research leadAndrew Webster
