1. Adelaide Research & Scholarship

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Results 31-39 of 39 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer’s diseaseNewman, M.; Halter, L.; Lim, A.; Lardelli, M.; Lakshmana, M.
2017A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repairBrickner, J.; Soll, J.; Lombardi, P.; Vågbø, C.; Mudge, M.; Oyeniran, C.; Rabe, R.; Jackson, J.; Sullender, M.; Blazosky, E.; Byrum, A.; Zhao, Y.; Corbett, M.; Gécz, J.; Field, M.; Vindigni, A.; Slupphaug, G.; Wolberger, C.; Mosammaparast, N.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
2017Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemiaBanjar, H.; Ranasinghe, D.; Brown, F.; Adelson, D.; Kroger, T.; Leclercq, T.; White, D.; Hughes, T.; Chaudhri, N.; Speletas, M.
2018Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismVan Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J.
2017Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataYu, C.; Baune, B.; Licinio, J.; Wong, M.
2017Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyEwans, L.J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.E.; Cowley, M.J.; Buckley, M.F.; Scheffer, I.E.; Jackson, M.R.; Roscioli, T.; Shoubridge, C.
2014From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomesClarke, A.; Prost, S.; Stanton, J.; White, W.; Kaplan, M.; Matisoo-Smith, E.; Genographic Consortium,

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