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Results 1-10 of 54 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016EPHA2 mutations contribute to congenital cataract through diverse mechanismsDave, A.; Martin, S.; Kumar, R.; Craig, J.; Burdon, K.; Sharma, S.
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.
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.
2019International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaTsoli, M.; Shen, H.; Mayoh, C.; Franshaw, L.; Ehteda, A.; Upton, D.; Carvalho, D.; Vinci, M.; Meel, M.H.; van Vuurden, D.; Plessier, A.; Castel, D.; Drissi, R.; Farrell, M.; Cryan, J.; Crimmins, D.; Caird, J.; Pears, J.; Francis, S.; Ludlow, L.E.A.; et al.
2017Epiregulin and EGFR interactions are involved in pain processingMartin, L.J.; Smith, S.B.; Khoutorsky, A.; Magnussen, C.A.; Samoshkin, A.; Sorge, R.E.; Cho, C.; Yosefpour, N.; Sivaselvachandran, S.; Tohyama, S.; Cole, T.; Khuong, T.M.; Mir, E.; Gibson, D.G.; Wieskopf, J.S.; Sotocinal, S.G.; Austin, J.S.; Meloto, C.B.; Gitt, J.H.; Gkogkas, C.; et al.
2014Understanding the undelaying mechanism of HASubtyping in the level of physic-chemal characteristics of proteinEbrahimi, M.; Aghagolzadeh, P.; Shamabadi, N.; Tahmasebi, A.; Alsharifi, M.; Adelson, D.; Hemmatzadeh, F.; Ebrahimie, E.; Tompkins, S.
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.
2017Structure aided design of a Neu5Gc specific lectinDay, C.; Paton, A.; Higgins, M.; Shewell, L.; Jen, F.; Schulz, B.; Herdman, B.; Paton, J.; Jennings, M.
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.