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Ellis–van Creveld syndrome / Rare diseases / EVC / Multiple epiphyseal dysplasia / Cartilage oligomeric matrix protein / Equivalent average / External quality assessment / MATN3 / Ratajczak / Health / Genodermatoses / Syndromes


ESDNnewsletter4January2004
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Document Date: 2009-03-19 11:53:23


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City

Paris / /

Continent

Europe / /

Country

France / /

/

Facility

Helsinki University Hospital / Institute of Human Genetics / Odense University Hospital / International Centre / Astrid Lindgrens Childrens Hospital / /

Holiday

New Year's Day / /

IndustryTerm

Web-portal system / diagnostic network / Web-portal / /

MedicalCondition

pseudoachondroplasia and multiple epiphyseal dysplasia / multiple epiphyseal dysplasia / mild myopathy / Achondroplasia / polydactyly / Ellis-van Creveld syndrome / /

Organization

Institute of Human Genetics / Odense University Hospital / United Kingdom National External Quality Assessment Service / International Centre for Life / Astrid Lindgrens Childrens Hospital / Helsinki University Hospital / ESDN / /

Person

Michael J. Wright / Michael D. Briggs / Gail C. Jackson / Michael Briggs / Rob Elles / Robert Elles / Leena Ala-Kokko / Elmar Nimmesgern / Christian / Stuart Tompson / Sarah Smithson / Piotr Rogala / Victor Ruiz-Perez / Geert Mortier / Helen Blair / Clair Baldock / van Kasperk / Gail Jackson / Mike Briggs / William Cole / Michael Wright / Andrew Wallace / William G. Cole / Faye Barker / Horton / Ilkka Kaitila / Lars Hagenäs / Astrid Lindgrens / Thomas Hertel / /

Position

project officer / mouse model for EvC by gene knockout / mouse model / /

Technology

antibodies / /

URL

www.emqn.org / http /

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