Publikace
- Journal of the American Society of Nephrology Misprocessing of α-Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response2025 | 1. lékařská fakulta, 3. lékařská fakulta
- Genes Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic2025 | 1. lékařská fakulta
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy2024 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Ústřední knihovna
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder2024 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis2024 | 1. lékařská fakulta
- A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis2024 | 1. lékařská fakulta
- Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection2024 | 1. lékařská fakulta
- ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder2024 | 1. lékařská fakulta
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