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Author/Creator Helgeson, Maria

1. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018)

Authors:
Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia...
Journal:
Journal of human genetics
Issue:
Volume 63:Issue 3(2018)
Page Start:
349
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

Authors:
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1097
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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