Related Experiment Videos
A second leaky splice-site mutation in the spastin gene
American Journal of Human Genetics
|November 13, 2001
Summary
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Genome-wide screen to identify genetic loci associated with cognitive decline in late-life depression.
International psychogeriatrics·2025
Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.
Frontiers in cell and developmental biology·2023
Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseases·2022
Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseases·2021
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseases·2021
Systematic and proactive evaluation of AIRE missense variant effects.
American journal of human genetics·2026
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
American journal of human genetics·2026
Cell villages and Dirichlet modeling map human cell fitness genetics.
American journal of human genetics·2026
Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.
American journal of human genetics·2026
Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.
American journal of human genetics·2026
Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.
American journal of human genetics·2026
Divergent total synthesis and reactivity of 2,3-dihydroxypropylphosphonic acid dipeptides.
Organic & biomolecular chemistry·2026
Erratum.
European addiction research·2026
Anterior cerebral artery occlusion mimicking MCA syndrome: A rare case of supplementary motor area syndrome due to thromboembolism.
Journal of cerebrovascular and endovascular neurosurgery·2026