Christine M. Eng
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Chromosomal microarray versus karyotyping for prenatal diagnosis
IRF2BPL Is Associated with Neurological Phenotypes
Regional genomic instability predisposes to complex dystrophin gene rearrangements
Exome Sequencing: Applications From the Lab Bench to the Clinic
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
