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Publications by Paulien A. Terhal
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A (PPP2CA) Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
American Journal of Human Genetics
Genetics
Gain of Glycosylation in Integrin Α3 Causes Lung Disease and Nephrotic Syndrome
Journal of Clinical Investigation
Medicine
Effectiveness of Whole-Exome Sequencing and Costs of the Traditional Diagnostic Trajectory in Children With Intellectual Disability
Genetics in Medicine
Medicine
Genetics
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Sequencing Studies in Human Genetics: Design and Interpretation
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Evolution of Genetic and Genomic Features Unique to the Human Lineage
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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights
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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans
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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?
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