Last Updated: 09/26/2026
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Found 10 publications
Leukoencephalopathy caused by a 17p13.3 microdeletion.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: June 20, 2023
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Journal: European journal of human genetics : EJHG
Published: June 10, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Journal: Nature communications
Published: March 14, 2022
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Journal: BMC medical genomics
Published: December 02, 2020
Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Journal: Nature genetics
Published: August 17, 2019
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Journal: Nature genetics
Published: March 12, 2018
Poster 244 An Unusual Cause of Coma from Consumption of Red Yeast Rice: A Case Report.
Journal: PM & R : the journal of injury, function, and rehabilitation
Published: September 28, 2016
Role of Environmental Confounding in the Association between FKBP5 and First-Episode Psychosis.
Journal: Frontiers in psychiatry
Published: May 16, 2014
Cross-region reduction in 5-hydroxymethylcytosine in Alzheimer's disease brain.
Journal: Neurobiology of aging
Published: November 18, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026