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Issue Date
Title
Author(s)
1997
Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3
Mitchison, H.
;
Munroe, P.
;
O'Rawe, A.
;
Taschner, P.
;
De Vos, N.
;
Kremmidiotis, G.
;
Lensink, I.
;
Munk, A.
;
D'Arigo, K.
;
Anderson, J.
;
Lerner, T.
;
Moyzis, R.
;
Callen, D.
;
Breuning, M.
;
Doggett, N.
;
Gardiner, R.
;
Mole, 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.
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.
2012
Dynamic mutations: where are they now?
van Eyk, C.
;
Richards, R.
;
Hannan, A.
1998
Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3
Centola, M.
;
Chen, X.
;
Sood, R.
;
Deng, Z.
;
Aksentijevich, I.
;
Blake, T.
;
Ricke, D.
;
Chen, X.
;
Wood, G.
;
Zaks, N.
;
Richards, N.
;
Krizman, D.
;
Mansfield, E.
;
Apostolou, S.
;
Liu, J.
;
Shafran, N.
;
Vedula, A.
;
Hamon, M.
;
Cercek, A.
;
Kahan, T.
;
et al.
2019
Race in a genome: long read sequencing, ethnicity-specific reference genomes and the shifting horizon of race
Kowal, E.
;
Llamas, B.
2016
The role of JNK signalling in responses to oxidative DNA damage
Shaukat, Z.
;
Liu, D.
;
Hussain, R.
;
Khan, M.
;
Gregory, S.
Discover
Author
22
Mulley, J.
17
Callen, D.
17
et al.
10
Gecz, J.
10
Gedeon, A.
10
Sutherland, G.
9
Richards, R.
8
Eyre, H.
6
Crawford, J.
6
Doggett, N.
.
next >
Subject
16
Intellectual Disability
15
Genetic Linkage
14
Mutation
14
X Chromosome
12
Adult
12
Cloning, Molecular
11
Exons
11
Genetic Markers
11
Sequence Analysis, DNA
11
Sequence Homology, Amino Acid
.
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