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Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Regional genomic instability predisposes to complex dystrophin gene rearrangements
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing
Input DNA ratio determines copy number of the 33 kb Factor IX gene on de novo human artificial chromosomes
Cytogenetically visible inversions are formed by multiple molecular mechanisms