Associated Papers
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx
The advances of genetics research on Hirschsprung's disease.
Ke J et al.
Pediatric Investigation, 2018
Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
Liu JA et al.
Gastroenterology, 2015
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