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Results 1-10 of 21 (Search time: 0.002 seconds).
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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.
Discover
Author
2
Kelly, J.M.
2
Lohmueller, K.E.
2
Shroff, R.
2
Sutherland, G.
1
Adadey, S.M.
1
Aksentijevich, I.
1
Allen, K.
1
Andermann, E.
1
Apostolou, S.
1
Arts, P.
.
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Subject
14
Humans
9
Female
9
Male
9
Molecular Sequence Data
6
Amino Acid Sequence
5
Alleles
5
Base Sequence
4
Animals
4
Aspergillus nidulans
4
Cloning, Molecular
.
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Date issued
1
2020 - 2023
5
2010 - 2019
13
1990 - 1999
2
1977 - 1979