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
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Liu B et al.
Scientific Reports, 2015
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