Classes
Publications
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | 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
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | First Faculty of Medicine, Centre for Knowledge and Technology Transfer
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | First Faculty of Medicine
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | First Faculty of Medicine
- Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys2023 | First Faculty of Medicine
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | First Faculty of Medicine
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
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