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Publications by Ingrid M. Wentzensen

Deleterious Variation in BRSK2 Associates With a Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2019English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2020English

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics
Genetics
2019English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American Journal of Human Genetics
Genetics
2019English

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics
Genetics
2019English

Phenotype and Mutation Expansion of the PTPN23 Associated Disorder Characterized by Neurodevelopmental Delay and Structural Brain Abnormalities

European Journal of Human Genetics
Genetics
2019English

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