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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
Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva-Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie-LouiseLanguage:
english
Journal:
Prenatal Diagnosis
DOI:
10.1002/pd.5156
Date:
September, 2017
File:
PDF, 866 KB
english, 2017