A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing - Holthöfer, Laura; Diederich, Stefan; Haug, Verena; Lehmann, Lioba; Hewel, Charlotte; Paul, Norbert W.; Schweiger, Susann; Gerber, Susanne; Linke, Matthias (BioMed Central, 2024)
Keywords: 610 Medizin; 610 Medical sciences