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Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.

Autor: Dremsek P; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria paul.dremsek@meduniwien.ac.at., Schachner A; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Reischer T; Department of Obstetrics and Gynaecology, Medical University of Vienna, Wien, Austria., Krampl-Bettelheim E; FetoMed-Fetal Medicine Clinic, Vienna, Austria., Bettelheim D; Department of Obstetrics and Gynaecology, Medical University of Vienna, Wien, Austria., Vrabel S; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Delissen Z; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Pfeifer M; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Weil B; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Bajtela R; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Hengstschläger M; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Laccone F; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria., Neesen J; Center for Pathobiochemistry and Genetics, Medical University of Vienna, Wien, Austria.

Publikováno v: Journal of medical genetics [J Med Genet] 2024 Dec 09. Date of Electronic Publication: 2024 Dec 09.