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Publications by Ruben van 't Slot
Mosaicism of De Novo Pathogenic SCN1A Variants in Epilepsy Is a Frequent Phenomenon That Correlates With Variable Phenotypes
Epilepsia
Neurology
A Co-Segregating Microduplication of Chromosome 15q11.2 Pinpoints Two Risk Genes for Autism Spectrum Disorder
American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
Psychiatry
Molecular Neuroscience
Mental Health
Genetics
Cellular
Related publications
Gonadal Mosaicism of Large Terminal De Novo Duplication and Deletion in Siblings With Variable Intellectual Disability Phenotypes
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Influence of Common SCN1A Promoter Variants on the Severity of SCN1A ‐related Phenotypes
Molecular genetics & genomic medicine
Genetics
Molecular Biology
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
American Journal of Human Genetics
Genetics
Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A
npj Genomic Medicine
Genetics
Molecular Biology
Copy Number Variants Are Frequent in Genetic Generalized Epilepsy With Intellectual Disability
Neurology
Neurology
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Parental Mosaicism in De Novo Translocation (21q21q) Down's Syndrome.
Journal of Medical Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
De Novo Microduplication of CHL1 in a Patient With Non-Syndromic Developmental Phenotypes
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
