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PreviewIssue DateTitleAuthor(s)
1995FRAXE and mental retardationMulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.
1997Interspecies sequence differences in the Mip protein from the genus Legionella: implications for function and evolutionary relatednessRatcliff, R.; Donnellan, S.; Lanser, J.; Manning, P.; Heuzenroeder, M.
1992Control of gene expression in the temperate coliphage 186. X. The cl repressor directly represses transcription of the late control gene BDibbens, J.A.; Gregory, S.L.; Egan, J.B.
2017Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsCorbett, M.; Turner, S.; Gardner, A.; Silver, J.; Stankovich, J.; Leventer, R.; Derry, C.; Carroll, R.; Ha, T.; Scheffer, I.; Bahlo, M.; Jackson, G.; Mackey, D.; Berkovic, S.; Gecz, J.
2017A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformationsPalmer, E.; Kumar, R.; Gordon, C.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.; Lewis, A.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2018Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII miceJiang, Z.; Derrick-Roberts, A.; Jackson, M.; Rossouw, C.; Pyragius, C.; Xian, C.; Fletcher, J.; Byers, S.
2017Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyBalasubramaniam, S.; Riley, L.; Bratkovic, D.; Ketteridge, D.; Manton, N.; Cowley, M.; Gayevskiy, V.; Roscioli, T.; Mohamed, M.; Gardeitchik, T.; Morava, E.; Christodoulou, J.
2017Mutations in the Katnb1 gene cause left-right asymmetry and heart defectsFurtado, M.; Merriner, D.; Berger, S.; Rhodes, D.; Jamsai, D.; O'Bryan, M.
2018Developing reproducible bioinformatics analysis workflows for heterogeneous computing environments to support African genomicsBaichoo, S.; Souilmi, Y.; Panji, S.; Botha, G.; Meintjes, A.; Hazelhurst, S.; Bendou, H.; de Beste, E.; Mpangase, P.; Souiai, O.; Alghali, M.; Yi, L.; O'Connor, B.; Crusoe, M.; Armstrong, D.; Aron, S.; Joubert, F.; Ahmed, A.; Mbiyavanga, M.; van Heusden, P.; et al.