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- Journal Article
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- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Conference Paper
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Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S273-S274 -
- Conference Paper
- C3
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A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119 -
Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial