Portal de investigação
Comprehensive copy number variant analysis of 11,000 previously unsolved rare disease exome sequencing datasets within the Solve-RD project results in diagnoses being reached for 2% of previously unsolved cases
Autores da FMUP
Participantes de fora da FMUP
- Demidov, G
- Yaldiz, B
- Musacchia, F
- Johansson, L
- Paramonov, I
- Garcia-Pelaez, J
- Benetti, E
- Vilanova, GB
- De Boer, E
- Schuermans, N
- Topf, A
- van de Vondel, L
- Vandrovcova, J
- Vissers, L
- Ossowski, S
- Laurie, S
Abstract
Abstract no disponible
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Filiações não disponíveis
Campos de estudo
Financiamento
Proyectos asociados
E-cadherin and CD44v6 in Gastric Cancer: Role, crosstalk and clinical implications
Investigador Principal: Carla Isabel Gonçalves de Oliveira
Estudo Clínico Académico . 2021
Citar a publicação
Demidov,G,Yaldiz,B,Musacchia,F,Johansson,L,Paramonov,I,Garcia,J,Benetti,E et al. Comprehensive copy number variant analysis of 11,000 previously unsolved rare disease exome sequencing datasets within the Solve-RD project results in diagnoses being reached for 2% of previously unsolved cases. 55th European-Society-of-Human-Genetics (ESHG) Conference. 2022. Vienna. CAMPUS, 4 CRINAN ST, LONDON, N1 9XW, ENGLAND:Nature Publishing Group. 2023 p.p. 617-617.
