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1
Returning genome sequences to research participants: policy and practice por Wright, CF, Middleton, A, Barrett, JC, Firth, HV, FitzPatrick, DR, Hurles, ME, Parker, M
Publicado em 2017Journal article -
2
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age por Moss, J, Penhallow, J, Ansari, M, Barton, S, Bourn, D, FitzPatrick, DR, Goodship, J, Hammond, P, Roberts, C, Welham, A, Oliver, C
Publicado em 2017Journal article -
3
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland por Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, K, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME, Firth, HV
Publicado em 2023Journal article -
4
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. por Köhler, S, Doelken, S, Mungall, C, Bauer, S, Firth, H, Bailleul-Forestier, I, Black, G, Brown, D, Brudno, M, Campbell, J, FitzPatrick, DR, Eppig, J, Jackson, A, Freson, K, Girdea, M, Helbig, I, Hurst, J, Jähn, J, Jackson, L, Kelly, A, Ledbetter, D, Mansour, S, Martin, C, Moss, C, Mumford, A
Publicado em 2014Journal article