Publikace
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations2015 | 2. lékařská fakulta
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | 2. lékařská fakulta, Ústřední knihovna
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | 2. lékařská fakulta
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 2. lékařská fakulta
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni, 3. lékařská fakulta
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | 1. lékařská fakulta, 2. lékařská fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 1. lékařská fakulta, 2. lékařská fakulta
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