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Natalia Vladimirovna Baryshnikova

Russian National Research Medical University

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Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.

2020 BMC Medical Genetics
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Clinical and molecular-genetic profiles of patients with morphological indications of congenital multicore myopathy

2019
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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

2018 BMC Medical Genetics
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