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An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.
Vulto-van Silfhout, Anneke T; van Ravenswaaij, Conny M A; Hehir-Kwa, Jayne Y; Verwiel, Eugène T P; Dirks, Rita; van Vooren, Steven; Schinzel, Albert; de Vries, Bert B A; de Leeuw, Nicole.
Afiliação
  • Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Eur J Med Genet ; 56(9): 471-4, 2013 Sep.
Article em En | MEDLINE | ID: mdl-23851227
ABSTRACT
The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Bases de Dados de Ácidos Nucleicos Tipo de estudo: Risk_factors_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2013 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Aberrações Cromossômicas / Bases de Dados de Ácidos Nucleicos Tipo de estudo: Risk_factors_studies Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2013 Tipo de documento: Article