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Results 21-30 of 45 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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
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.
2011
Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases
Lawlor, K.
;
O'Keefe, L.
;
Samaraweera, S.
;
van Eyk, C.
;
McLeod, C.
;
Maloney, C.
;
Dang, T.
;
Suter, C.
;
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.
2013
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, L.
;
Kim, H.
;
Rosenfeld, J.
;
Shen, Y.
;
Gusella, J.
;
Lacassie, Y.
;
Layman, L.
;
Shaffer, L.
;
Gecz, J.
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.
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.
1996
A novel X-linked gene, G4.5. is responsible for Barth Syndrome
Bione, S.
;
D'Adamo, P.
;
Maestrini, E.
;
Gedeon, A.
;
Bolhuis, P.
;
Toniolo, D.
Discover
Author
14
Mulley, J.
8
Gedeon, A.
7
et al.
6
Callen, D.
5
Colley, A.
5
Eyre, H.
5
Gecz, J.
5
Haan, E.
5
Sutherland, G.
4
Richards, R.
.
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Subject
41
Humans
15
Pedigree
12
Chromosome Mapping
11
Genetic Linkage
11
Molecular Sequence Data
10
Animals
10
Intellectual Disability
10
X Chromosome
9
Amino Acid Sequence
9
Mutation
.
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Date issued
5
2020 - 2022
14
2010 - 2019
1
2000 - 2009
25
1995 - 1999