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Automated mutation analysis.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 503, doi. 10.1023/A:1005508324048
By:
- Ravine, D.
Publication type:
Article
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Published in:
Clinical Genetics, 2012, v. 82, n. 6, p. 526, doi. 10.1111/j.1399-0004.2011.01838.x
By:
- Zhang, J;
- Bao, X;
- Cao, G;
- Jiang, S;
- Zhu, X;
- Lu, H;
- Jia, L;
- Pan, H;
- Fehr, S;
- Davis, M;
- Leonard, H;
- Ravine, D;
- Wu, X
Publication type:
Article
Episodic ataxia type 2 : Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
Published in:
Journal of Neurology, 2002, v. 249, n. 11, p. 1515, doi. 10.1007/s00415-002-0860-8
By:
- van den Maagdenberg, A.M.J.M.;
- Kors, E.E.;
- Brunt, E.R.;
- van Paesschen, W.;
- Pascual, J.;
- Ravine, D.;
- Keeling, S.;
- Vanmolkot, K.R.J.;
- Vermeulen, F.L.M.G.;
- Terwindt, G.M.;
- Haan, J.;
- Frants, R.R.;
- Ferrari, M.D.
Publication type:
Article
Review article: Breaking new ground with Rett syndrome.
Published in:
Journal of Intellectual Disability Research, 2003, v. 47, n. 8, p. 580, doi. 10.1046/j.1365-2788.2003.00506.x
By:
- Kerr, A. M.;
- Ravine, D.
Publication type:
Article
HFE mutations, iron deficiency and overload in 10 500 blood donors.
Published in:
British Journal of Haematology, 2001, v. 114, n. 2, p. 474, doi. 10.1046/j.1365-2141.2001.02949.x
By:
- Jackson, H. A.;
- Carter, K.;
- Darke, C.;
- Guttridge, M. G.;
- Ravine, D.;
- Hutton, R. D.;
- Napier, J. A.;
- Worwood, M.
Publication type:
Article
Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: the Fremantle Diabetes Study.
Published in:
2010
By:
- Bruce DG;
- Van Minnen K;
- Davis WA;
- Mudhar J;
- Perret M;
- Subawickrama DP;
- Venkitachalam S;
- Ravine D;
- Davis TM;
- Bruce, David G;
- Van Minnen, Kylie;
- Davis, Wendy A;
- Mudhar, Jaspreet;
- Perret, Michael;
- Subawickrama, Dayani P;
- Venkitachalam, Stephanie;
- Ravine, David;
- Davis, Timothy M E
Publication type:
journal article

Found: 6

Automated mutation analysis.

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Episodic ataxia type 2 : Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

Review article: Breaking new ground with Rett syndrome.

HFE mutations, iron deficiency and overload in 10 500 blood donors.

Maternal family history of diabetes is associated with a reduced risk of cardiovascular disease in women with type 2 diabetes: the Fremantle Diabetes Study.