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OMIM - Congenital disorder
OMIM - Anemia disorders
Cancer Gene Census - mutations in cancer genes
Spinal muscular atrophy type I fibroblast GM03813 & PNN 1-46 cells undergoing SMN-C1 & -C3 treatment
OMIM - Brain CNS Motor Neuron and other Neuropathy Disorders
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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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COVID-19 and Hereditary Metabolic Diseases
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kaz…
Genomic Screening for Hereditary Erythrocytosis and Related Diseases
Frequency of COVID-19 Antibodies in Patients With Hereditary Hematological Diseases
Studies of Hereditary Hemorrhagic Telangiectasia
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