Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | Second Faculty of Medicine
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | Second Faculty of Medicine
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019 | Second Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | First Faculty of Medicine, Second Faculty of Medicine
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | Second Faculty of Medicine
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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