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