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Putting some spine into alternative splicing.
Khoo B, Akker SA, Chew SL. Khoo B, et al. Trends Biotechnol. 2003 Aug;21(8):328-30. doi: 10.1016/S0167-7799(03)00168-9. Trends Biotechnol. 2003. PMID: 12902166
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.
Srirangalingam U, Walker L, Khoo B, MacDonald F, Gardner D, Wilkin TJ, Skelly RH, George E, Spooner D, Monson JP, Grossman AB, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. Srirangalingam U, et al. Among authors: khoo b. Clin Endocrinol (Oxf). 2008 Oct;69(4):587-96. doi: 10.1111/j.1365-2265.2008.03274.x. Epub 2008 Apr 14. Clin Endocrinol (Oxf). 2008. PMID: 18419787
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.
Srirangalingam U, Khoo B, Walker L, MacDonald F, Skelly RH, George E, Spooner D, Johnston LB, Monson JP, Grossman AB, Drake WM, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL. Srirangalingam U, et al. Among authors: khoo b. Endocr Relat Cancer. 2009 Jun;16(2):515-25. doi: 10.1677/ERC-08-0239. Epub 2009 Feb 10. Endocr Relat Cancer. 2009. PMID: 19208735
Splicing therapeutics in SMN2 and APOB.
Khoo B, Krainer AR. Khoo B, et al. Curr Opin Mol Ther. 2009 Apr;11(2):108-15. Curr Opin Mol Ther. 2009. PMID: 19330716 Free PMC article. Review.
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium. Igreja S, et al. Among authors: khoo b. Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292. Hum Mutat. 2010. PMID: 20506337 Free PMC article.
365 results