Associated Papers
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36778464 (PubMed )
Supplement: media-1.xlsx › Table_2
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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