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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 4, p. 260
By:
- Cuisset, Laurence;
- Drenth, Joost PH;
- Simon, Anna;
- Vincent, Marie Francoise;
- van der Velde Visser, Saskia;
- van der Meer, Jos WM;
- Grateau, Gilles;
- Delpech, Marc
Publication type:
Article
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.
Published in:
2001
By:
- Simon, Anna;
- Cuisset, Laurence;
- Vincent, M.-Françoise;
- van der Velde-Visser, Saskia D.;
- Delpech, Marc;
- van der Meer, Jos W. M.;
- Drenth, Joost P. H.;
- Simon, A;
- Cuisset, L;
- Vincent, M F;
- van Der Velde-Visser, S D;
- Delpech, M;
- van Der Meer, J W;
- Drenth, J P
Publication type:
journal article
CRB1 mutation spectrum in inherited retinal dystrophies.
Published in:
Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
By:
- den Hollander, Anneke I.;
- Davis, Jason;
- van der Velde-Visser, Saskia D.;
- Zonneveld, Marijke N.;
- Pierrottet, Chiara O.;
- Koenekoop, Robert K.;
- Kellner, Ulrich;
- van den Born, L. Ingeborgh;
- Heckenlively, John R.;
- Hoyng, Carel B.;
- Handford, Penny A.;
- Roepman, Ronald;
- Cremers, Frans P.M.
Publication type:
Article
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 2, p. 361, doi. 10.1093/hmg/8.2.361
By:
- de Kok, Yvette J. M.;
- Bom, Steven J. H.;
- Brunt, Tibor M.;
- Kemperman, Martijn H.;
- van Beusekom, Ellen;
- van der Velde-Visser, Saskia D.;
- Robertson, Nahid G.;
- Morton, Cynthia C.;
- Huygen, Patrick L. M.;
- Verhagen, Wim I. M.;
- Brunner, Han G.;
- Cremers, Cor W. R. J.;
- Cremers, Frans P. M.
Publication type:
Article

Found: 4

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool.

CRB1 mutation spectrum in inherited retinal dystrophies.

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.