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OMIM - Congenital disorder
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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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Repository for Inherited Eye Diseases
Cardiac Manifestation and Inherited Metabolic Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Orphan Drugs for Inherited Metabolic Diseases
Inherited Diseases, Caregiving, and Social Networks
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