Publikace
- Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans2018 | 1. lékařská fakulta
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | 1. lékařská fakulta
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | 1. lékařská fakulta
- Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes2015 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation2012 | 1. lékařská fakulta
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | 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
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