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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)