Export 2 results:
Author Title Type [ Year
] Filters: Author is Ruiz-Ferrer, Macarena and Keyword is Hirschprung [Clear All Filters]
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.