Nine V Knoers

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

Sabine Tejpar, E. Van Cutsem, S. Tejpar, 2007, The Journal of clinical investigation.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Ton Feuth, Kazutoyo Osoegawa, Han G Brunner, 2003, American journal of human genetics.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Rachel Thompson, Hanns Lochmüller, Holm Graessner, 2018, European Journal of Human Genetics.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Anke M Hövels, Peter M van Hasselt, Nanda M Verhoeven-Duif, 2016, Genetics in Medicine.