Publikace
- Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans2018 | 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
- Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer2015 | 1. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene2013 | 1. lékařská fakulta
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?2021 | 1. lékařská fakulta
- NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease2020 | 1. lékařská fakulta, Lékařská fakulta v Plzni, 3. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
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