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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: stankovich jm. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Using genetic advances to investigate diabetes in Tasmania.
Dwyer T, Sale MM, Stankovich JM, Hazelwood KF, Mulcahy N. Dwyer T, et al. Among authors: stankovich jm. Diabetes Technol Ther. 2001 Winter;3(4):641-6. doi: 10.1089/15209150152811289. Diabetes Technol Ther. 2001. PMID: 11911178 No abstract available.
Investigation of albinism genes in congenital esotropia.
Burdon KP, Wilkinson RM, Barbour JM, Dickinson JL, Stankovich JM, Mackey DA, Sale MM. Burdon KP, et al. Among authors: stankovich jm. Mol Vis. 2003 Dec 16;9:710-4. Mol Vis. 2003. PMID: 14685142 Free article.
Novel plasma and brain proteins that are implicated in multiple sclerosis.
Lin X, Yang Y, Gresle M, Cuellar-Partida G, Han X, Stankovich J; AusLong/Ausimmune Investigators Group; Simpson-Yap S, Fuh-Ngwa V, Charlesworth J, Burdon KP, Butzkueven H, Taylor BV, Zhou Y. Lin X, et al. Brain. 2023 Jun 1;146(6):2464-2475. doi: 10.1093/brain/awac420. Brain. 2023. PMID: 36346149
69 results