Silvère van der Maarel
Leiden University Medical Centre
192 papers found
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Functional monovalency amplifies the pathogenicity of anti-MuSK IgG4 in myasthenia gravis
Download from doi.orgChromosome 10q-linked FSHD identifies DUX4 as principal disease gene
UploadMeeting report: the 2020 FSHD International Research Congress
Download from doi.orgEvaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
Download from doi.orgDnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
Download from doi.orgHomozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
UploadPreserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
UploadIntronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
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