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PreviewIssue DateTitleAuthor(s)
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.
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
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.
2020Phenotypic characterization and comparison of Phe508del and cystic fibrosis transmembrane conductance regulator (CFTR) knockout rat models of cystic fibrosis generated by CRISPR/Cas9 gene editingMcCarron, A.; Cmielewski, P.; Reyne, N.; McIntyre, C.; Finnie, J.; Craig, F.; Rout-Pitt, N.; Delhove, J.; Schjenken, J.E.; Chan, H.Y.; Boog, B.; Knight, E.; Gilmore, R.C.; O'Neal, W.K.; Boucher, R.C.; Parsons, D.; Donnelley, M.
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.
2013Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patientsYoung-Gqamana, B.; Brignol, N.; Chang, H.; Khanna, R.; Soska, R.; Fuller, M.; Sitaraman, S.; Germain, D.; Giugliani, R.; Hughes, D.; Mehta, A.; Nicholls, K.; Boudes, P.; Lockhart, D.; Valenzano, K.; Benjamin, E.; Schiffmann, R.
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.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2019Knockout of p75 neurotrophin receptor attenuates the hyperphosphorylation of Tau in pR5 mouse modelMañucat-Tan, N.B.; Shen, L.L.; Bobrovskaya, L.; Al-hawwas, M.; Zhou, F.H.; Wang, Y.J.; Zhou, X.F.