Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Diverse Genetic Etiologies of Unilateral Polymicrogyria.
Annals of neurology·2026
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
American journal of human genetics·2021
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.
European journal of human genetics : EJHG·2020
Duplication 2p16 is associated with perisylvian polymicrogyria.
American journal of medical genetics. Part A·2019
Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.
Frontiers in endocrinology·2026
Linking <i>SIRT1</i> gene variation and protein levels to the pathophysiology of type 2 diabetes.
Molecular biology research communications·2026
Pharmacogenetic analyses in people with dementia in Northeast Germany.
Alzheimer's & dementia (Amsterdam, Netherlands)·2026
Research progress on targeted regulatory proteins in the prevention and treatment of atherosclerosis.
Frontiers in immunology·2026
Distribution of ST116 carbapenem-resistant <i>Citrobacter freundii</i> in public genomes and characterization of a triple-carbapenemase-producing strain.
Frontiers in cellular and infection microbiology·2026