- De novo variants in neurodevelopmental disorders-experiences from a tertiary care center2021 | 1. lékařská fakulta
- De novo variants in neurodevelopmental disorders with epilepsy2018 | 2. lékařská fakulta
- GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy2022 | 1. lékařská fakulta
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | 1. lékařská fakulta
- ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures2023 | 1. lékařská fakulta
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene2019 | 2. lékařská fakulta, Ústřední knihovna
- Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome2019 | 2. lékařská fakulta, 1. lékařská fakulta
- Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients2016 | 2. lékařská fakulta
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 | Ústřední knihovna
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data2017 | 2. lékařská fakulta
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | 2. lékařská fakulta
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | 2. lékařská fakulta, 1. lékařská fakulta, Ústřední knihovna
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | 1. lékařská fakulta
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature2017 | 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 | 2. lékařská fakulta, 1. lékařská fakulta
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | 2. lékařská fakulta
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction2023 | 1. lékařská fakulta
- Male patient with ALG13 associated congenital disorder of glycosylation2021 | 2. lékařská fakulta
- Monogenic variants in dystonia: an exome-wide sequencing study2020 | 1. lékařská fakulta
