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PreviewIssue DateTitleAuthor(s)
2001Mutations at the boundary of the hinge and ligand binding domain of the androgen receptor confer increased transactivation functionBuchanan, G.; Yang, M.; Harris, J.; Nahm, H.; Han, G.; Moore, N.; Bentel, J.; Matusik, R.; Horsfall, D.; Marshall, V.; Greenberg, N.; Tilley, W.
2006Suppression of androgen receptor signaling in prostate cancer cells by an inhibitory receptor variantButler, L.; Centenera, M.; Neufing, P.; Buchanan, G.; Choong, C.; Ricciardelli, C.; Saint, K.; Lee, M.; Ochnik, A.; Yang, M.; Brown, M.; Tilley, W.
1995Fragile X syndrome and other dynamic mutation diseasesSutherland, G.; Richards, R.
2004Effect of β₂‐glycoprotein I null mutation on reproductive outcome and antiphospholipid antibody‐mediated pregnancy pathology in miceRobertson, S.; Roberts, C.; van Beijering, E.; Pensa, K.; Sheng, Y.; Shi, T.; Krilis, 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.
2001Collocation of androgen receptor gene mutations in prostate cancerBuchanan, G.; Greenberg, N.; Scher, H.; Harris, J.; Marshall, V.; Tilley, W.
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2017NAD deficiency, congenital malformations, and niacin supplementationShi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
2021A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouseHouston, B.J.; Conrad, D.F.; O'Bryan, M.K.
2019Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in femalesJackson, M.R.; Loring, K.E.; Homan, C.C.; Thai, H.N.; Määttänen, L.; Arvio, M.; Jarvela, I.; Shaw, M.; Gardner, A.; Gecz, J.; Shoubridge, C.