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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.
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.
2018
Chromosome structural anomalies due to aberrant spindle forces exerted at gene editing sites in meiosis
Ćuksza, M.
;
Kanaan, J.
;
Marthiens, V.
;
Lane, S.
;
Jones, K.
;
Terret, M.
;
Basto, R.
;
Verlhac, M.
2021
HYPOXIA AND REPRODUCTIVE HEALTH: hypoxia and ovarian function: follicle development, ovulation, oocyte maturation
Lim, M.
;
Thompson, J.G.
;
Dunning, K.R.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
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Author
15
Mulley, J.
9
Callen, D.
8
et al.
8
Gedeon, A.
6
Eyre, H.
6
Gecz, J.
6
Sutherland, G.
5
Colley, A.
5
Crawford, J.
5
Haan, E.
.
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Subject
47
Humans
45
Male
16
Pedigree
14
Animals
14
Molecular Sequence Data
13
Chromosome Mapping
12
Genetic Linkage
12
Intellectual Disability
12
X Chromosome
9
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Date issued
8
2020 - 2022
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2010 - 2019
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1995 - 1999