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Results 11-20 of 31 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1996
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
Gedeon, A.
;
Haan, E.
;
Mulley, J.
1998
Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.
Secombe, J.
;
Pispa, J.
;
Saint, R.
;
Richardson, H.
1996
Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndrome
Gedeon, A.
;
Kozman, H.
;
Robinson, H.
;
Pilia, G.
;
Schlessinger, D.
;
Turner, G.
;
Mulley, J.
1996
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
Gedeon, A.
;
Glass, I.
;
Connor, J.
;
Mulley, J.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, J.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
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.
1997
Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2
Horwitz, M.
;
Benson, K.
;
Li, F.Q.
;
Wolff, J.
;
Leppert, M.
;
Hobson, L.
;
Mangelsdorf, M.
;
Yu, S.
;
Hewett, D.
;
Richards, R.
;
Raskind, W.
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.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
et al.
Discover
Author
15
Mulley, J.
9
Gedeon, A.
7
Callen, D.
6
Sutherland, G.
5
Colley, A.
5
Eyre, H.
4
Donnelly, A.
4
Haan, E.
4
Richards, R.
3
Baker, E.
.
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Subject
28
Humans
25
Female
16
Chromosome Mapping
15
Pedigree
13
Molecular Sequence Data
13
X Chromosome
12
Genetic Linkage
9
Amino Acid Sequence
9
Genetic Markers
8
Intellectual Disability
.
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Date issued
4
1999
12
1998
4
1997
8
1996
3
1995