CLINICAL PEDIATRICS AND RARE DISEASES
University of Manchester
Mánchester, Reino UnidoPublications in collaboration with researchers from University of Manchester (2)
2023
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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106
2016
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Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation, and mutation-dependent neurodegeneration by dysfunction of the autophagic flux
Journal of Biological Chemistry, Vol. 291, Núm. 41, pp. 21363-21374