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Filters: Author is Bleda, Marta 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.
Pathways systematically associated to Hirschsprung’s disease. Orphanet journal of rare diseases. 2013;8:187. doi:10.1186/1750-1172-8-187.