Maastricht UMC+ Genetics Retreat 4 gene tica R E T R A I T E 2010 Guus van den Akker, Maastricht University Egr1 & Chondrogenesis Peter van den Akker, UMC Groningen Unusual phenotype-genotype correlations in recessive dystrophic epidermolysis bullosa Katja Ritz, AMC Amsterdam Alternative splicing of epsilon-sarcoglycan in Myoclonus-Dystionia 2011 Yasmin Namavar, AMC Amsterdam The role of the tRNA splicing endonuclease in Pontocerebellar Hypoplasia. Evelyn Kouwenhoven, Radboud UMC Nijmegen Beyond the open reading frame: Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM 1 locus. Katja Ritz, AMC Amsterdam Looking ultra deep: short homologous sequences and transcriptional slippage. 2012 Veerle Eggens, AMC-UvA Amsterdam CL K2 missense mutation in a family with pontocerebellar hypoplasia type 7 Harm-Jan Westra, UMC Groningen eQTL meta-analysis on 5,311 samples unravels novel disease pathways Mireille Schaap, LUMC Leiden Analysis of worldwide tandem repeat copy number variation of eight macrosatellite repeats 2013 Wybrich Cnossen, Radboud UMC Nijmegen Identification of a novel gene associated with polycystic liver and kidney diseases Julie Rutten, LUMC Leiden Cysteine quantity correction in CADASIL ; modification of the NOTCH 3 protein using antisense oligonucleotides Patrick Deelen, UMC Groningen Imputation benchmarking of the Genome of the Netherlands
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