Publications
Export 3 results:
Filters: Keyword is Exome and Author is Brunner, Han G [Clear All Filters]
Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 ;96(4):612-22.
. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 ;18(11):1158-1162.
.