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Results 31-40 of 285 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2020Long-term exposure to PM₂.₅ and fasting plasma glucose in non-diabetic adolescents in Yogyakarta, IndonesiaYu, W.; Sulistyoningrum, D.C.; Gasevic, D.; Xu, R.; Julia, M.; Murni, I.K.; Chen, Z.; Lu, P.; Guo, Y.; Li, S.
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.
2019Three pregnancies after transplantation: An 84-year-old kidney is the gift that keeps giving lifeBateman, S.M.; Coates, P.T.; Jesudason, S.
2019Differential patterns of disease and injury in Mozambique: new perspectives from a pragmatic, multicenter, surveillance study of 7809 emergency presentationsMocumbi, A.O.; Cebola, B.; Muloliwa, A.; Sebastiao, F.; Sitefane, S.J.; Manafe, N.; Dobe, I.; Lumbandali, N.; Keates, A.; Stickland, N.; Chan, Y.-K.; Stewart, S.; Silva, J.P.
2020Heterozygous rare genetic variants in non-syndromic early-onset obesitySerra-Juhé, C.; Martos-Moreno, G.; Bou de Pieri, F.; Flores, R.; Chowen, J.A.; Pérez-Jurado, L.A.; Argente, J.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
2020The association between age of onset of type 2 diabetes with the long-term risk of end-stage kidney disease: a National Registry studyMorton, J.I.; Liew, D.; McDonald, S.P.; Shaw, J.E.; Magliano, D.J.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.

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