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Publications by Isaac J. Nijman

Mosaicism of De Novo Pathogenic SCN1A Variants in Epilepsy Is a Frequent Phenomenon That Correlates With Variable Phenotypes

Epilepsia
Neurology
2018English

Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation

Scientific Reports
Multidisciplinary
2018English

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