1. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020) Authors: Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020) Authors: Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗