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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
By:
- Hoornaert, Kristien P.;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A.;
- Leroy, Jules G.;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- Cormier-Daire, Valerie;
- De Die-Smulders, Christine;
- Dieux-Coeslier, Anne;
- Dollfus, Hélène;
- Elting, Mariet;
- Green, Andrew;
- Guerci, Veronica I.;
- Hennekam, Raoul C. M.;
- Hilhorts-Hofstee, Yvonne;
- Holder, Muriel
Publication type:
Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
2010
By:
- Hoornaert, Kristien P;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A;
- Leroy, Jules G;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- Cormier-Daire, Valerie;
- De Die-Smulders, Christine;
- Dieux-Coeslier, Anne;
- Dollfus, Hélène;
- Elting, Mariet;
- Green, Andrew;
- Guerci, Veronica I;
- Hennekam, Raoul CM;
- Hilhorts-Hofstee, Yvonne;
- Holder, Muriel
Publication type:
Correction Notice
Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow.
Published in:
Molecular Diagnosis & Therapy, 2022, v. 26, n. 4, p. 411, doi. 10.1007/s40291-022-00585-3
By:
- Wils, Gertjan;
- Helsmoortel, Céline;
- Volders, Pieter-Jan;
- Vereecke, Inge;
- Milazzo, Mauro;
- Vandesompele, Jo;
- Coppieters, Frauke;
- De Leeneer, Kim;
- Lefever, Steve
Publication type:
Article
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
Published in:
Human Mutation, 2015, v. 36, n. 3, p. 379, doi. 10.1002/humu.22739
By:
- Leeneer, Kim;
- Hellemans, Jan;
- Steyaert, Wouter;
- Lefever, Steve;
- Vereecke, Inge;
- Debals, Eveline;
- Crombez, Brecht;
- Baetens, Machteld;
- Heetvelde, Mattias;
- Coppieters, Frauke;
- Vandesompele, Jo;
- Jaegher, Annelies;
- Baere, Elfride;
- Coucke, Paul;
- Claes, Kathleen
Publication type:
Article

Found: 4

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.

Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow.

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.