Publications
Journal Article (4)
1.
Journal Article
23 (12), pp. 2091 - 2102 (2013)
Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 2.
Journal Article
Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. International Journal of Cardiology (164(3)), pp. 301 - 305 (2013)
3.
Journal Article
21 (4), pp. 367 - 372 (2013)
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 4.
Journal Article
50 (1), pp. 47 - 53 (2013)
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics