Paracentric inversion disrupting the SHANK2 gene
Source
European journal of medical genetics - ISSN 1769-7212-75 (2025) p. 1-11
RNU4-2-related neurodevelopmental disorder is associated with a recognisable facial gestalt
Source
Clinical genetics - ISSN 0009-9163-107:1 (2025) p. 104-112
Implementation of exome sequencing in prenatal diagnostics : chances and challenges
Source
Diagnostics - ISSN 2075-4418-13:5 (2023) p. 1-11