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Results 1-10 of 172 (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.
2012Dynamic mutations: where are they now?van Eyk, C.; Richards, R.; Hannan, A.
2016Conformational changes in the GM-CSF receptor suggest a molecular mechanism for affinity conversion and receptor signalingBroughton, S.E.; Hercus, T.R.; Nero, T.L.; King-Scott, J.; Lopez, A.F.; Parker, M.W.; Dottore, M.; McClure, B.J.; Dhagat, U.; Taing, H.; Gorman, M.A.
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.
2014Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in AfricansBosch, J.; Noubiap, J.J.N.; Dandara, C.; Makubalo, N.; Wright, G.; Entfellner, J.-B.D.; Tiffin, N.; Wonkam, A.
2019GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in CameroonTingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
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.
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.

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