List of works by Ivo Fac Fokkema

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

scientific article published on 03 September 2019

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

scientific article

Erratum: Therapeutic exon skipping for dysferlinopathies?

scholarly article published in European Journal of Human Genetics

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

scientific article published on 11 March 2008

The LOVD3 platform: efficient genome-wide sharing of genetic variants

scientific article published on 15 September 2021

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

scientific article

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

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