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Author/Creator Zalan, Alice

1. Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome highlights potential pitfalls of molecular testing. Issue 3 (22nd February 2022)

Authors:
Kirchner, Allison; Sanchez, Isabelle M.; Zalan, Alice; Bhat, Gifty; Bain, Michelle
Journal:
Pediatric dermatology
Issue:
Volume 39:Issue 3(2022)
Page Start:
483
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗