Résultats de la recherche

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(1 - 9 of 9)
A novel recurrent LIS1 splice site mutation in classic lissencephaly
Rare ACTG1 variants in fetal microlissencephaly
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1