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SLC7A3 : in silico prediction of a potential new cause of childhood epilepsy
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- Journal Article
- A1
- open access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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- Journal Article
- A1
- open access
New approach for genomic characterisation of equine sarcoid-derived BPV-1/-2 using nanopore-based sequencing
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- Journal Article
- A1
- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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A heuristic procedure for personnel task rescheduling with time-resource-quality trade-offs
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- Journal Article
- A1
- open access
CHEK2 mutations and papillary thyroid cancer : correlation or coincidence?
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Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium
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- Journal Article
- A1
- open access
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
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- Journal Article
- A1
- open access
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
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XIAP restrains TNF-driven intestinal inflammation and dysbiosis by promoting innate immune responses of Paneth and dendritic cells