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Issue Date | Title | Author(s) |
---|---|---|
1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |
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- 1 2020