Where I see patients (2)
Selected research
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Alpha protein kinase 3 gene therapy restores heart function in mouse and human models of cardiomyopathy.
Nature cardiovascular research
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Senescent microglia with shortened telomeres secrete soluble DLK1 to induce aging-associated hypomyelination and neuronal dysfunction.
Neuron
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A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.
Clinical dysmorphology
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