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Issue Date
Title
Author(s)
2011
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
Dibbens, L.
;
Kneen, R.
;
Bayly, M.
;
Heron, S.
;
Arsov, T.
;
Damiano, J.
;
Desai, T.
;
Gibbs, J.
;
McKenzie, F.
;
Mulley, J.
;
Ronan, A.
;
Scheffer, I.
2016
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
Ried, J.
;
Jeff, J.
;
Chu, A.
;
Bragg-Gresham, J.
;
Van Dongen, J.
;
Huffman, J.
;
Ahluwalia, T.
;
Cadby, G.
;
Eklund, N.
;
Eriksson, J.
;
Esko, T.
;
Feitosa, M.
;
Goel, A.
;
Gorski, M.
;
Hayward, C.
;
Heard-Costa, N.
;
Jackson, A.
;
Jokinen, E.
;
Kanoni, S.
;
Kristiansson, K.
;
et al.
2011
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Sutton, E.
;
Hughes, J.
;
White, S.
;
Sekido, R.
;
Tan, J.
;
Arboleda, V.
;
Rogers, N.
;
Knower, K.
;
Rowley, L.
;
Eyre, H.
;
Rizzoti, K.
;
McAninch, D.
;
Golcalves, J.
;
Slee, J.
;
Turbitt, E.
;
Bruno, D.
;
Bengtsson, H.
;
Harley, V.
;
Vilain, E.
;
Sinclair, A.
;
et al.
2014
Mitochondrial genome sequencing in mesolithic North East Europe unearths a new sub-clade within the broadly distributed human haplogroup C1
Der Sarkissian, C.
;
Brotherton, P.
;
Balanovsky, O.
;
Templeton, J.
;
Llamas, B.
;
Soubrier, J.
;
Moiseyev, V.
;
Khartanovich, V.
;
Cooper, A.
;
Haak, W.
;
Genographic Consortium,
;
Achilli, A.
2014
AmericaPlex26: a SNaPshot multiplex system for genotyping the main human mitochondrial founder lineages of the Americas
Coutinho, A.
;
Valverde, G.
;
Fehren-Schmitz, L.
;
Cooper, A.
;
Barreto Romero, M.
;
Flores Espinoza, I.
;
Llamas, B.
;
Haak, W.
;
Achilli, A.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, 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.
2017
Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer’s disease
Newman, M.
;
Halter, L.
;
Lim, A.
;
Lardelli, M.
;
Lakshmana, M.
2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
Brickner, 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.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, 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.
2017
Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemia
Banjar, H.
;
Ranasinghe, D.
;
Brown, F.
;
Adelson, D.
;
Kroger, T.
;
Leclercq, T.
;
White, D.
;
Hughes, T.
;
Chaudhri, N.
;
Speletas, M.
Discover
Author
8
et al.
4
Richards, R.
3
Adelson, D.
3
Coe, B.
3
Cooper, A.
3
Gecz, J.
3
Kvarnung, M.
3
Lardelli, M.
3
Llamas, B.
3
Newman, M.
.
next >
Subject
17
Animals
15
Male
14
Female
8
DNA, Mitochondrial
8
Polymorphism, Single Nucleotide
7
Disease Models, Animal
6
Adolescent
6
Genetic Predisposition to Disease
6
Mice
5
Adult
.
next >
Date issued
5
2019
5
2018
10
2017
3
2016
7
2015
5
2014
4
2013
1
2012
3
2011
1
2010
.
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