Publikace
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | 2. lékařská fakulta
- 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
- De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia2019 | 2. lékařská fakulta
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | 2. lékařská fakulta
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations2015 | 2. lékařská fakulta
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | 2. lékařská fakulta
- Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: Methodology issues and kinetics2008 | 2. lékařská fakulta
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 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 | 2. lékařská fakulta, 1. lékařská fakulta
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | 2. lékařská fakulta, 1. lékařská fakulta
Loading network view...