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Publications

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing

Genotype-phenotype correlation at codon 1740 ofSETD2

Germline AGO2 mutations impair RNA interference and human neurological development

Hyperkeratotic hand eczema: Eczema or not?

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

Natural exon skipping reveals that antisense oligonucleotide-mediated exon skipping should be directed at the recessive type of dystrophic epidermolysis bullosa

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy

Cardiomyopathy in epidermolysis bullosa simplex patients with mutations in KLHL24 gene

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