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Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
By:
- Hichri, Haifa;
- Stoetzel, Corinne;
- Laurier, Virginie;
- Caron, Solenne;
- Sigaudy, Sabine;
- Sarda, Pierre;
- Hamel, Christian;
- Martin-Coignard, Dominique;
- Gilles, Morin;
- Leheup, Bruno;
- Holder, Mureille;
- Kaplan, Josseline;
- Bitoun, Pierre;
- Lacombe, Didier;
- Verloes, Alain;
- Bonneau, Dominique;
- Perrin-Schmitt, Fabienne;
- Brandt, Christian;
- Besancon, Anne-Françoise;
- Mandel, Jean-Louis
Publication type:
Article
From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Published in:
Human Mutation, 2011, v. 32, n. 4, p. 379, doi. 10.1002/humu.21391
By:
- Hichri, Haifa;
- Rendu, John;
- Monnier, Nicole;
- Coutton, Charles;
- Dorseuil, Olivier;
- Poussou, Rosa Vargas;
- Baujat, Geneviève;
- Blanchard, Anne;
- Nobili, François;
- Ranchin, Bruno;
- Remesy, Michel;
- Salomon, Rémi;
- Satre, Véronique;
- Lunardi, Joel
Publication type:
Article