Leiden University Scholarly Publications

High-Throughput Phenotypic Screening of Kinase Inhibitors to Identify Drug Targets for Polycystic Kidney Disease

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Expanding the therapeutic possibilities of NOTCH3 Cysteine Quantity Correction in CADASIL

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features