Publikace
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | 1. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Mutace v genu DNAJC5 kodujici cysteine-string protein alfa jsou pricinou autozomalne dominantni adultni formy neuronalni ceroidni lipofuscinozy.2011 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | 1. lékařská fakulta
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | 1. lékařská fakulta
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | 1. lékařská fakulta
- ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder2023 | 1. lékařská fakulta
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | 1. lékařská fakulta, 3. lékařská fakulta
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