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Displaying the 2 most recent scholarly works by Fiona Gardiner.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, Sarah E Buerki, Fiona Gardiner, J Helen Cross, Benedicte Heron, Anna Kaminska, Christian M Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C Mefford, Cyrill Mignot, Matthieu Milh, Amelie Piton, Ronit M Pressler, Susanne Ruf, Lynette G Sadleir, Anne de Saint Martin, et al.
Journal article | 2021 | EPILEPSIA
OBJECTIVE: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clini..
Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J Bamshad, Eileen Barr, Jonathan A Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K Chung, Michael A Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D Graf, Stephanie Grunewald, Katherine Hammond, Natalie S Hauser, et al.
Journal article | 2020 | JOURNAL OF INHERITED METABOLIC DISEASE
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-..