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PreviewIssue DateTitleAuthor(s)
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.
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.
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.
2000A de novo mutation in sporadic nocturnal frontal lobe epilepsyPhillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
2019Alternative splicing in a presenilin 2 variant associated with Alzheimer diseaseBraggin, J.E.; Bucks, S.A.; Course, M.M.; Smith, C.L.; Sopher, B.; Osnis, L.; Shuey, K.D.; Domoto-Reilly, K.; Caso, C.; Kinoshita, C.; Scherpelz, K.P.; Cross, C.; Grabowski, T.; Nik, S.H.M.; Newman, M.; Garden, G.A.; Leverenz, J.B.; Tsuang, D.; Latimer, C.; Gonzalez-Cuyar, L.F.; et al.
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.
2018Deleterious variation shapes the genomic landscape of introgressionKim, B.Y.; Huber, C.D.; Lohmueller, K.E.; Schierup, M.H.
2005SCN1A mutations and epiliepsyMulley, J.; Scheffer, I.; Petrou, S.; Dibbens, L.; Berkovic, S.; Harkin, L.
2003Multicopy icsA is able to suppress the virulence defect caused by wzzSF mutation in the Shigella flexneriMorona, R.; Van Den Bosch, L.
2005NmlR of Neisseria gonorrhoeae : a novel redox responsive transcription factor from the MerR familyKidd, S.; Potter, A.; Apicella, M.; Jennings, M.; McEwan, A.