Modernizing the LDL-C Calculation to Improve Patient Care
Autoimmune Neurology in the Diagnostic Laboratory
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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.