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Cracking rare disorders : a new minimally invasive RNA-seq protocol
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Clinical impact of RNA-sequencing in diagnostics
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.648-648 -
SLC7A3 : in silico prediction of a potential new cause of childhood epilepsy
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Use of zebrafish models to boost research in rare genetic diseases
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Serotonergic modulation as effective treatment for Dravet syndrome in a zebrafish mutant model