Publications

Export 3 results:
Author Title [ Year(Desc)]
Filters: Author is Beuten, Joke  [Clear All Filters]
2014
Wangler, M. F. et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet 10, e1004258 (2014).
Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870-9 (2014).
2018
Wang, X. et al. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).