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Results 31-40 of 54 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, 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.
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.
2011
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
Dibbens, L.
;
Kneen, R.
;
Bayly, M.
;
Heron, S.
;
Arsov, T.
;
Damiano, J.
;
Desai, T.
;
Gibbs, J.
;
McKenzie, F.
;
Mulley, J.
;
Ronan, A.
;
Scheffer, I.
Discover
Author
15
Mulley, J.
9
Callen, D.
8
et al.
8
Gedeon, A.
6
Eyre, H.
6
Gecz, J.
6
Sutherland, G.
5
Colley, A.
5
Crawford, J.
5
Haan, E.
.
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Subject
47
Humans
45
Male
16
Pedigree
14
Animals
14
Molecular Sequence Data
13
Chromosome Mapping
12
Genetic Linkage
12
Intellectual Disability
12
X Chromosome
9
Adult
.
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Date issued
8
2020 - 2022
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2010 - 2019
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2000 - 2009
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1995 - 1999