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GENOTYPE-PHENOTYPE ASSOCIATIONS PROVIDE A RATIONAL TO IDENTIFY POTENTIALLY ACTIONABLE VUS

Autor: Pelaez J, Monteiro R, Lobo S, Sousa L, Pinheiro H, Castedo S, Garrido L, Teixeira M, Michils G, Bours V, de Putter R, Golmard L, Blanluet M, Colas C, Benusiglio P, Desseignes C, Florence C, Aretz S, Spier I, Huneburg R, Gieldon L, Schrock E, Holinski-Feder E, Steinke V, Calistri D, Tedaldi G, Ranzani G, Genuardi M, Silveira C, Silva I, Krajc M, Blatnik A, Novacovik S, Patino-Garcia A, Soto J, Lazaro C, Capella G, Brunet-Vidal J, Balmana J, Dominguez-Garrido E, Ligtenberg M, Fewings E, Fitzgerald R, Woodward E, Evans G, Hanson H, Lagerstedt-Robinson K, Bajalica-Lagercrantz S, Egas C, Tejada M, Dahan K, Feret D, Hoogerbrugge N, Tischkowitz M, Oliveira C

Publikováno v: MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::209286cba8871551ab3179f3aeff12b9
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12207

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Autor: Vos, JR, Giepmans, L, Rohl, C, Geverink, N, Hoogerbrugge, N, Ligtenberg, M, Kets, M, Sijmons, R, Evans, G, Woodward, E, Tischkowitz, M, Maher, E, Steinke-Lange, V, Holinski-Feder, E, Frebourg, T, Houdayer, C, Ferner, RE, Lubinski, J, Ertmanska, K, Lagercrantz, SB, Tham, E, Guillermo, IB, Capella, G, Vidal, JB, Lazaro, C (Conxi), Balmana, J, Bours, V, Legius, E, Wolkenstein, P, Melegh, B, Oliveira, C, Teixeira, M, Poppe, B, Claes, K, Hernandez, HS, Aretz, AWM, Spier, I, Oostenbrink, Rianne, Krajc, M, Blatnik, A, Schrock, E, Peltonen, S, Hietala, M, Ern, G

Publikováno v: Vos, JR, Giepmans, L, Röhl, C, Geverink, N, Hoogerbrugge, N, ERN, GENTURIS & Evans, D G 2019, ' Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes. ', Familial Cancer . https://doi.org/10.1007/s10689-018-0110-6
Familial Cancer, 18(2), 281-284. SPRINGER
Familial Cancer, 18(2), 281-284. Springer Netherlands
Familial Cancer
Familial Cancer, 18, 281-284
Familial Cancer, 18, 2, pp. 281-284
FAMILIAL CANCER

Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee01440d9c450a349db2b80095a24994
http://europepmc.org/abstract/med/30302652

A study on the impact of parameter settings on the biological reproducibility and sensitivity of extracted radiomic features from full field digital mammography images

Autor: Zhao, Wei, Yu, Lifeng, Klanecek, Z., Wagner, T., Wang, Y. K., Cockmartin, L., Hertl, K., Jarm, K., Krajc, M., Marshall, N. W., Studen, A., Vrhovec, M., Bosmans, H., Jeraj, R.

Publikováno v: Proceedings of SPIE; April 2022, Vol. 12031 Issue: 1 p120311S-120311S-16, 11910806p