Publications
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | First Faculty of Medicine
- Bioinformatic perspectives in the neuronal ceroid lipofuscinoses2013 | First Faculty of Medicine
- 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
- Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma2023 | First Faculty of Medicine, Central Library of Charles University, Faculty of Science
- Germline multigene panel testing of patients with endometrial cancer2023 | First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | First Faculty of Medicine, Second Faculty of Medicine
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
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