Publikace
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | 1. lékařská fakulta, Ústřední knihovna, 2. lékařská fakulta
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 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
- Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | 1. lékařská fakulta, 3. l ékařská fakulta
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna, 2. lékařská fakulta
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