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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.
.
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Subject
49
Male
47
Female
30
Animals
27
Molecular Sequence Data
23
Chromosome Mapping
19
Pedigree
18
Amino Acid Sequence
16
Base Sequence
16
Chromosomes, Human, Pair 16
16
Intellectual Disability
.
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Date issued
13
2020 - 2023
44
2010 - 2019
3
2000 - 2009
52
1995 - 1999