Publications
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | Second Faculty of Medicine
- Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach2017 | Second Faculty of Medicine
- Importance of Cerebral Folate Deficiency for Development and Treatment of Autism Spectrum Disorder2014 | Faculty of Physical Education and Sport, Second Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | First Faculty of Medicine, Second Faculty of Medicine
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | First Faculty of Medicine, Second Faculty of Medicine
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