Hearing Loss in a Genetic World
The Genetics of Hearing Loss
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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.
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.
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.