Publikationen Abt. Molekulare Humangenetik (H.-Hilger Ropers)
Zeitschriftenartikel (2)
Zeitschriftenartikel
110 (10), S. 1787 - 1803 (2023)
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. The American Journal of Human Genetics
Zeitschriftenartikel
30 (6), S. 1179 - 1189 (2023)
Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide. Journal of the American Medical Informatics Association