Adelaide Research & Scholarship: Search

Search

Results 1-10 of 21 (Search time: 0.007 seconds).

previous
1
2
3
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1998	A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.	Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
	1998	Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24	Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
	2012	Dynamic mutations: where are they now?	van Eyk, C.; Richards, R.; Hannan, A.
	2018	Gene expression drives the evolution of dominance	Huber, C.D.; Durvasula, A.; Hancock, A.M.; Lohmueller, K.E.
	2019	GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon	Tingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
	1999	Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
	2018	Deleterious variation shapes the genomic landscape of introgression	Kim, B.Y.; Huber, C.D.; Lohmueller, K.E.; Schierup, M.H.
	2023	Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications	Sullivan, P.J.; Gayevskiy, V.; Davis, R.L.; Wong, M.; Mayoh, C.; Mallawaarachchi, A.; Hort, Y.; McCabe, M.J.; Beecroft, S.; Jackson, M.R.; Arts, P.; Dubowsky, A.; Laing, N.; Dinger, M.E.; Scott, H.S.; Oates, E.; Pinese, M.; Cowley, M.J.
	1998	Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.	Secombe, J.; Pispa, J.; Saint, R.; Richardson, H.
	1997	Dynamic mutation: possible mechanisms and significance in human disease	Richards, R.; Sutherland, G.