Publications
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- 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 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | 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 | Second Faculty of Medicine, First Faculty of Medicine
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities2021 | Second Faculty of Medicine, First Faculty of Medicine
- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | Second Faculty of Medicine
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