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OMIM - Congenital disorder
Neuronal SH-SY5Y cells and SH(15M) cells with maternal 15q duplication with UBE3A siRNA_RNA-Seq
Gastric cancer and down syndrome MET-amplified KATO II cells with shRNA-mediated ERBB3 knockdown
Skeletal muscle expression profiling in mitochondrial disorders
Cancer Gene Census - mutations in cancer genes
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Silencing human genetic diseases with oligonucleotide-based therapies.
Pharmacological chaperons: a novel therapeutic approach for genetic diseases].
MicroRNAs in genetic disease: rethinking the dosage.
Improving recognition of inherited renal disease.
Development of generic immunoassay for the detection of a series of aminoglycosides with 6'-OH group…
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Hirschsprung Disease Genetic Study
Research for Individualized Therapeutics in Rare Genetic Disease
Genetic and Metabolic Disease in Children
Von Hippel-Lindau Disease Genetic Epidemiology Study
Establishment of Genetic Basis for Neurological Disease by Genetic Screening
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