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Results 11-20 of 57 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
1995X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeGedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2020Genetic history from the Middle Neolithic to present on the Mediterranean island of SardiniaMarcus, J.H.; Posth, C.; Ringbauer, H.; Lai, L.; Skeates, R.; Sidore, C.; Beckett, J.; Furtwängler, A.; Olivieri, A.; Chiang, C.W.K.; Al-Asadi, H.; Dey, K.; Joseph, T.A.; Liu, C.-C.; Der Sarkissian, C.; Radzevičiūtė, R.; Michel, M.; Gradoli, M.G.; Marongiu, P.; Rubino, S.; et al.
2020Cohort profile: the Australian genetics of depression studyByrne, E.M.; Kirk, K.M.; Medland, S.E.; McGrath, J.J.; Colodro-Conde, L.; Parker, R.; Cross, S.; Sullivan, L.; Statham, D.J.; Levinson, D.F.; Licinio, J.; Wray, N.R.; Hickie, I.B.; Martin, N.G.
2020Enhanced cardiac phosphoinositide 3-kinase (p110α) using gene therapy attenuates cardiac remodeling in type 2 diabetic micePrakoso, D.; De Blasio, M.J.; Tate, M.; Kiriazis, H.; Donner, D.G.; Qian, H.; Nash, D.; Deo, M.; Weeks, K.L.; Parry, L.J.; Gregorevic, P.; McMullen, J.R.; Ritchie, R.H.
2020Can we blame fathers who are obese peri-conception, for increasing chronic disease risk in children?McPherson, N.O.
1997Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogeneticsCallen, D.; Yip, M.Y.; Eyre, H.
2018ADCY9 genetic variants and cardiovascular outcomes with evacetrapib in patients with high-risk vascular disease: a nested case-control studyNissen, S.; Pillai, S.; Nicholls, S.; Wolski, K.; Riesmeyer, J.; Weerakkody, G.; Foster, W.; McErlean, E.; Li, L.; Bhatnagar, P.; Ruotolo, G.; Lincoff, A.