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Article

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Johnson, D.S. and DDD Study, (2018) MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. European Journal of Medical Genetics.

Schirwani, S. orcid.org/0000-0001-9602-4063, Wakeling, E., Smith, K. et al. (2 more authors) (2018) Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. American Journal of Medical Genetics Part A, 176 (5). pp. 1238-1244. ISSN 1552-4825

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

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Lord, H., Levesque, S. et al. (14 more authors) (2016) Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Journal of Medical Genetics. ISSN 0022-2593

This list was generated on Mon Aug 19 05:01:31 2019 BST.