Browsing Centre for Genomics and Child Health by Subject "Rare Diseases"
Now showing items 1-6 of 6
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
(2017-01-05)Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who ... -
MDB-16. TARGETING EPIGENETIC DYSREGULATION IN PAEDIATRIC BRAIN TUMOURS
(Oxford University Press (OUP), 2023-06-12) -
MEDB-23. Targeting epigenetic dysregulation in medulloblastoma with poor prognosis
(Oxford University Press (OUP), 2022-06-03) -
Real-World Outcomes and Digitally Monitored Quality of Life in Voxelotor-Treated Patients with Sickle Cell Disease
(American Society of Hematology, 2023-11-28) -
STEM-02. SYNGN: A NOVEL EPIGENETIC PLATFORM FOR PATIENT-SPECIFIC DRUG-MATCHING IN GLIOBLASTOMA
(Oxford University Press (OUP), 2023-11-10)