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Publications by Miriam Elbracht

DEGS1-associated Aberrant Sphingolipid Metabolism Impairs Nervous System Function in Humans

Journal of Clinical Investigation

English

Search for Cis-Acting Factors and Maternal Effect Variants in Silver-Russell Patients With ICR1 Hypomethylation and Their Mothers

European Journal of Human Genetics

English

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology

English

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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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Putting Gene Essentiality Into Context

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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?

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