Margaret E. Harley
Edinburgh, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
A progeria syndrome links DNA hypermethylation to age-related pathology.
Journal: Nature genetics
Published: April 07, 2025
CDK4 loss-of-function mutations cause microcephaly and short stature.
Journal: Genes & development
Published: September 20, 2024
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Journal: Hormone research in paediatrics
Published: February 13, 2024
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Journal: Nature genetics
Published: August 12, 2015
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
Journal: American journal of medical genetics. Part A
Published: January 30, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026