(FM) Pediatría
Departamento académico
University of Manchester
Mánchester, Reino UnidoPublicaciones en colaboración con investigadores/as de 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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A Restricted Repertoire of de Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
American Journal of Human Genetics, Vol. 98, Núm. 5, pp. 981-992