Items where authors include "Desurkar, A."
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Article
Yates, T.M., Suri, M., Desurkar, A. et al. (8 more authors) (2018) SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. European Journal of Paediatric Neurology, 22 (6). pp. 1095-1102. ISSN 1090-3798
Willoughby, J. orcid.org/0000-0002-8185-5849, Duff-Farrier, C., Desurkar, A. et al. (4 more authors) (2018) Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient. American Journal of Medical Genetics Part A, 176 (5). pp. 1049-1054. ISSN 1552-4825