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) ↗
3. Clinical aspects of a large group of adults with Angelman syndrome. Issue 1 (27th October 2020) Authors: den Besten, Inge; de Jong, Rianne F.; Geerts‐Haages, Amber; Bruggenwirth, Hennie T.; Koopmans, Marije; Brooks, Alice; Elgersma, Ype; Festen, Dederieke A. M.; Valstar, Marlies J. Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗