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Author/Creator Le Fevre, Anna

1. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. Issue 3 (17th February 2017)

Authors:
Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 3(2017)
Page Start:
753
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases. Issue 2 (1st February 2023)

Authors:
Post, Merel A.; de Wit, Isis; Zijlstra, Fokje S. M.; Engelke, Udo F. H.; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito‐Lee, Joy; Lee, Beom Hee; Low, Karen J.; Mallick, Andrew A.; Õunap, Katrin; Pitt, James; Reardon, William; Vals, Mari‐Anne; Wortmann,...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
313
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗