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Publications by Marie McDonald
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies
American Journal of Human Genetics
Genetics
Corrigendum to “Does Age Affect Response to Quinidine in Patients With KCNT1 Mutations? Report of Three New Cases and Review of the Literature” [Seizure 55 (February) (2018) 1–3]
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Expanding the Clinical Phenotype of the 3q29 Microdeletion Syndrome and Characterization of the Reciprocal Microduplication
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology