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Results 11-20 of 138 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(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.
2019A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationKhayat, W.; Hackett, A.; Shaw, M.; Ilie, A.; Dudding-Byth, T.; Kalscheuer, V.M.; Christie, L.; Corbett, M.A.; Juusola, J.; Friend, K.L.; Kirmse, B.M.; Gecz, J.; Field, M.; Orlowski, J.
2021Cerebral palsy with autism and ADHD: time to pay attentionGecz, J.; Berry, J.G.
2020Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaicsGecz, J.; Thomas, P.Q.
2020A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKolc, K.L.; Sadleir, L.G.; Depienne, C.; Marini, C.; Scheffer, I.E.; Møller, R.S.; Trivisano, M.; Specchio, N.; Pham, D.; Kumar, R.; Roberts, R.; Gecz, J.
2020Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesBennett, M.F.; Oliver, K.L.; Regan, B.M.; Bellows, S.T.; Schneider, A.L.; Rafehi, H.; Sikta, N.; Crompton, D.E.; Coleman, M.; Hildebrand, M.S.; Corbett, M.A.; Kroes, T.; Gecz, J.; Scheffer, I.E.; Berkovic, S.F.; Bahlo, M.
2018Common genetic variants contribute to risk of rare severe neurodevelopmental disordersNiemi, M.E.K.; Martin, H.C.; Rice, D.L.; Gallone, G.; Gordon, S.; Kelemen, M.; McAloney, K.; McRae, J.; Radford, E.J.; Yu, S.; Gecz, J.; Martin, N.G.; Wright, C.F.; Fitzpatrick, D.R.; Firth, H.V.; Hurles, M.E.; Barrett, J.C.
2005XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneStepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C.
2003Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiencyBirrell, G.; Lampe, A.; Richmond, S.; Bruce, S.; Gecz, J.; Lower, K.; Wright, M.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.

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