Publikace
- Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics2014 | 1. lékařská fakulta, 2. lékařská fakulta
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | 1. lékařská fakulta
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients2012 | 1. lékařská fakulta
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | 1. lékařská fakulta
- Expanze v genu FMR1, velká delece na Xp a zešikmená X-inaktivace u dívky s mentální retardací a autismem2010 | 1. lékařská fakulta
- Unusual presentation of Kelley-Seegmiller syndrome2008 | 1. lékařská fakulta, 3. lékařská fakulta
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | 1. lékařská fakulta
- Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients2023 | 1. lékařská fakulta
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | 1. lékařská fakulta
- Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease2021 | 1. lékařská fakulta, 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Hradci Králové
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