Eva H. Brilstra
Utrecht University(NL)University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Intracranial Aneurysms: Treatment and Complications
Most-Cited Works
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → Treatment of Intracranial Aneurysms by Embolization with Coils(1999)493 cited
- → Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies(2009)448 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → The phenotypic spectrum of SCN8A encephalopathy(2015)283 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
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