Publications
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Axenfeld-Rieger syndrome: more than meets the eye2023 | Second Faculty of Medicine, First Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 12018 | Second Faculty of Medicine, First Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism2016 | Second Faculty of Medicine
- Two supernumerary marker-chromosomes in a healthy woman: a case reportPublication without faculty affiliation
- Two supernumerary marker-chromosomes in a healthy woman - a case reportPublication without faculty affiliation
- Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case reportPublication without faculty affiliation
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | Second Faculty of Medicine
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