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Results 1-10 of 22 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
1995
Assignment of the human skeletal muscle a-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization
Eyre, H.
;
Akkari, P.
;
Wilton, S.
;
Callen, D.
;
Baker, E.
;
Laing, N.
1996
bcl-w, a novel member of the bcl-2 family, promotes cell survival
Gibson, L.
;
Holmgreen, S.
;
Huang, D.
;
Bernand, O.
;
Copeland, N.
;
Jenkins, N.
;
Sutherland, G.
;
Baker, E.
;
Adams, J.
;
Cory, S.
1998
Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs
Callaghan, M.
;
Russell, A.
;
Woollatt, E.
;
Sutherland, G.
;
Sutherland, R.
;
Watts, C.
1997
A Novel Epithelial-Expressed ETS Gene, ELF3 - Human and Murine cDNA Sequences, Murine Genomic Organization, Human Mapping to 1q32.2 and Expression in Tissues and Cancer
Tymms, M.
;
Ng, A.
;
Thomas, R.
;
Schutte, B.
;
Zhou, J.
;
Eyre, H.
;
Sutherland, G.
;
Seth, A.
;
Rosenberg, M.
;
Papas, T.
;
Debouck, C.
;
Kola, I.
1995
Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation
Hunt, C.
;
Eyre, H.
;
Akkari, P.
;
Meredith, C.
;
Dorosz, S.
;
Wilton, S.
;
Callen, D.
;
Laing, N.
;
Baker, E.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
Discover
Author
10
Sutherland, G.
7
Gecz, J.
5
Baker, E.
4
Eyre, H.
3
et al.
3
Woollatt, E.
2
Akkari, P.
2
Berkovic, S.
2
Burdon, K.
2
Callen, D.
.
next >
Subject
13
Amino Acid Sequence
13
Base Sequence
12
Mice
11
Chromosome Mapping
11
Female
8
Pedigree
7
Mutation
7
Sequence Homology, Amino Acid
6
DNA, Complementary
6
In Situ Hybridization, Fluorescence
.
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2010 - 2012
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2000 - 2009
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1995 - 1999