Graaf, B.M. de

patient family mutation heart chromosome analysis valve linkage study region aortic rbm 24a disease genet embryo development protein phenotype syndrome marker abnormality anomaly morphant expression family members aneurysm defect member rbm 24b haplotype novel reflux figure table disorder locus stenosi osteoarthritis zebrafish score feature university inclusion autosomal 72 hpf linkage analysis netherland sequence brain inheritance change right result rbm 24a mo variant missense atrophy pedigree frontotemporal dementia rotterdam erasmu erasmus university rotterdam 48 hpf department genome-wide center presence vesicoureteral reflux ataxia control genetic rbm 24b morphants dementia smad 3 mutation onset symptom dissection candidate examination artery