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Results 1-10 of 57 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1996
The stoned locus of drosophila melanogaster produces a dicistronic transcript and encodes two distinct polypeptides
Andrews, J.
;
Smith, M.
;
Merakovsky, J.
;
Coulson, M.
;
Hannan, F.
;
Kelly, L.
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.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1996
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)
Gedeon, A.
;
Turner, G.
;
Mulley, J.
2007
The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene
Schwartz, C.
;
Tarpey, P.
;
Lubs, H.
;
Verloes, A.
;
May, M.
;
Risheg, H.
;
Friez, M.
;
Futreal, P.
;
Edkins, S.
;
Teague, J.
;
Briault, S.
;
Skinner, C.
;
Bauer-Carlin, A.
;
Simensin, R.
;
Joseph, S.
;
Jones, J.
;
Gecz, J.
;
Stratton, M.
;
Raymond, F.
;
Stevenson, R.
2021
Of 'junk food' and 'brain food': how parental diet influences offspring neurobiology and behaviour
Bodden, C.
;
Hannan, A.J.
;
Reichelt, A.C.
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.
1996
A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
Donnelly, A.
;
Colley, A.
;
Crimmins, D.
;
Mulley, J.
2019
Dietary micronutrient supplementation for 12 days in obese male mice restores sperm oxidative stress
Mc Pherson, N.O.
;
Shehadeh, H.
;
Fullston, T.
;
Zander-Fox, D.
;
Lane, M.
Discover
Author
16
Mulley, J.
9
Gedeon, A.
7
Callen, D.
7
et al.
7
Gecz, J.
6
Eyre, H.
6
Richards, R.
6
Sutherland, G.
5
Colley, A.
5
Haan, E.
.
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Subject
10
Amino Acid Sequence
9
Genetic Markers
9
Mutation
9
Syndrome
8
Adult
8
Child
8
Mice
7
Adolescent
7
Infant
7
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6
2020 - 2022
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2010 - 2019
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2000 - 2009
31
1995 - 1999