Spieler, D. ; Velayos-Baeza, A.* ; Mühlbäck, A.* ; Castrop, F.* ; Maegerlein, C.* ; Slotta-Huspenina, J.* ; Bader, B.* ; Haslinger, B.* ; Danek, A.*
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.
Mol. Genet. Genomic Med. 8:e1179 (2020)
Westphal, D.S. ; Burkard, T.* ; Moscu-Gregor, A.* ; Gebauer, R.* ; Hessling, G.* ; Wolf, C.M.*
Reclassification of genetic variants in children with long QT syndrome.
Mol. Genet. Genomic Med. 8:e1300 (2020)