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Results 1-9 of 9 (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
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
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
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.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
1998
PAK3 mutation in nonsyndromic X-linked mental retardation
Allen, K.
;
Gleeson, J.
;
Bagrodia, S.
;
Partington, M.
;
MacMillan, J.
;
Cerione, R.
;
Mulley, J.
;
Walsh, C.
1998
Localisation of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity.
Kremmidiotis, G.
;
Baker, E.
;
Crawford, J.
;
Eyre, H.
;
Nahmias, J.
;
Callen, D.
1998
ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, & is shown to be expressed in primitive hematopoietic precursors.
Kuss, B.
;
O'Neill, G.
;
Eyre, H.
;
Doggett, N.
;
Callen, D.
;
Davey, R.
Discover
Author
5
Mulley, J.
4
Callen, D.
3
Phillips, H.
2
Berkovic, S.
2
Crawford, J.
2
Eyre, H.
2
Reis, A.
2
Saar, K.
2
Scheffer, I.
2
Singh, R.
.
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Subject
5
Chromosome Mapping
5
Pedigree
4
Molecular Sequence Data
3
Chromosomes, Human, Pair 16
3
Cloning, Molecular
3
Gene Deletion
3
Mutation
2
Amino Acid Sequence
2
Animals
2
Exons
.
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