Silvère van der Maarel
Leiden University Medical Centre
191 papers found
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A functional assay to classify ZBTB24 missense variants of unknown significance
Download from api.wiley.comFSHD1 and FSHD2 form a disease continuum
UploadMuSK myasthenia gravis monoclonal antibodies
Download from doi.orgEarly onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
UploadFacioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
UploadMRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD
UploadA 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
UploadFSHD type 2 and Bosma arhinia microphthalmia syndrome
UploadCis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Download from doi.orgIgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders
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