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Results 1-10 of 26 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2008Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birthJasper, M.; Liebelt, J.; Hussey, N.
2008TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessGuipponi, M.; Antonarakis, S.; Scott, H.
2008Evaluating DNA sequence variants of unknown biological significanceGrist, S.; Dubowsky, A.; Suthers, G.; Trent, R.
2008Ethnicity and risk for colorectal cancers showing somatic BRAF V600E mutation or CpG island methylator phenotypeEnglish, D.; Young, J.; Simpson, J.; Jenkins, M.; Southey, M.; Walsh, M.; Buchanan, D.; Barker, M.; Haydon, A.; Royce, S.; Roberts, A.; Parry, S.; Hopper, J.; Jass, J.; Giles, G.
2008Association of PARL rs3732581 genetic variant with insulin levels, metabolic syndrome and coronary artery diseasePowell, B.; Wiltshire, S.; Arscott, G.; McCaskie, P.; Hung, J.; McQuillan, B.; Thompson, P.; Carter, K.; Palmer, L.; Beilby, J.
2008An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing lossGuipponi, M.; Toh, M.; Tan, J.; Park, D.; Hanson, K.; Ballana, E.; Kwong, D.; Cannon, P.; Wu, Q.; Gout, A.; Delorenzi, M.; Speed, T.; Smith, R.; Dahl, H.; Petersen, M.; Teasdale, R.; Estivill, X.; Park, W.; Scott, H.
2008Nilotinib (formerly AMN107), a highly selective BCR-ABL tyrosine kinase inhibitor, is active in patients with imatinib-resistant or -intolerant accelerated-phase chronic myelogenous leukemiale Coutre, P.; Ottmann, O.; Giles, F.; Kim, D.; Cortes, J.; Gattermann, N.; Apperley, J.; Larson, R.; Abruzzese, E.; O'Brien, S.; Kuliczkowski, K.; Hochhaus, A.; Mahon, F.; Saglio, G.; Gobbi, M.; Kwong, Y.; Baccarani, M.; Hughes, T.; Martinelli, G.; Radich, J.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.

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