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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Journal Article published 17 Oct 2017 in Prenatal Diagnosis volume 37 issue 11 on pages 1146 to 1154

Research funded by Svenska Sällskapet för Medicinsk Forskning | Akademiska Sjukhuset

Authors: Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson