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Number of items: 4.


Balasubramanian, M., 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., 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., 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., 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 Sun Jul 5 23:40:17 2020 BST.