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Deletion of the entire NF1 gene causing distinct manifestations in a family.
Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.
Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome.
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Atypical cases of Angelman syndrome.
Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.
Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome.