Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityExpanding the spectrum of phenotypes associated with germline PIGA mutationsEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersRecurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesMate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Mieke M van Haelst
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van Haelst