Jukka Moilanen
0000-0002-8041-3205
Oulu University Hospital
4 papers found
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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss: PAAKKOLAet al .
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
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