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Results 1-10 of 19 (Search time: 0.003 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.
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.
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.
1998
Human chemokines fractalkine (SCYD1), MDC (SCYA22) and TARC (SCYA17) are clustered on chromosome 16q13.
Nomiyama, H.
;
Imai, T.
;
Kusuda, J.
;
Miura, R.
;
Callen, D.
;
Yoshie, O.
1998
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2y: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
Schollen, E.
;
Pardon, E.
;
Heykants, L.
;
Renard, J.P.
;
Doggett, N.
;
Callen, D.
;
Cassiman, J.J.
;
Matthijs, G.
1998
Deafness due to Pro250Arg mutation of FGFR3
Hollway, G.
;
Suthers, G.
;
Battese, K.
;
Turner, A.
;
David, D.
;
Mulley, J.
1998
Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Mulley, J.
;
Saar, K.
;
Hewitt, G.
;
Rueschendorf, F.
;
Phillips, H.
;
Colley, A.
;
Sillence, D.
;
Reis, A.
;
Wilson, M.
1998
A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), & enhanced MYC expression in the absence of gene amplification.
Kees, U.
;
Spagnolo, D.
;
Hallam, L.
;
Ford, J.
;
Ranford, P.
;
Baker, D.
;
Callen, D.
;
Biegel, J.
1998
Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16
Cavanaugh, J.
;
Callen, D.
;
Wilson, S.
;
Stanford, P.
;
Sraml, M.
;
Gorska, M.
;
Crawford, J.
;
Whitmore, S.
;
Shlegel, C.
;
Foote, S.
;
Kohonen-Corish, M.
;
Pavli, P.
Discover
Author
9
Callen, D.
7
Mulley, J.
4
Eyre, H.
3
Crawford, J.
3
Doggett, N.
3
Phillips, H.
3
Whitmore, S.
2
Berkovic, S.
2
Hollway, G.
2
Reis, A.
.
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Subject
11
Male
10
Female
9
Molecular Sequence Data
8
Chromosome Mapping
8
Chromosomes, Human, Pair 16
7
Pedigree
6
Cloning, Molecular
5
Amino Acid Sequence
5
Animals
5
Exons
.
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