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Issue Date
Title
Author(s)
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.
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.
1998
Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.
Hollway, G.
;
Mulley, J.
2017
Sharing data to build a medical information commons: from Bermuda to the Global Alliance
Cook-Deegan, R.
;
Ankeny, R.A.
;
Jones, K.M.
;
Chakravarti, A.
;
Green, E.D.
1996
The first gene for an idiopathic epilepsy: A fruitful collaboration of Australian Clinical Research and Molecular Genetics
Berkovic, S.
;
Mulley, J.
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
22
Mulley, J.
17
Callen, D.
17
et al.
10
Gecz, J.
10
Gedeon, A.
10
Sutherland, G.
9
Richards, R.
8
Eyre, H.
6
Crawford, J.
6
Doggett, N.
.
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Subject
49
Male
47
Female
30
Animals
27
Molecular Sequence Data
23
Chromosome Mapping
19
Pedigree
18
Amino Acid Sequence
16
Base Sequence
16
Chromosomes, Human, Pair 16
16
Intellectual Disability
.
next >
Date issued
13
2020 - 2023
44
2010 - 2019
3
2000 - 2009
52
1995 - 1999