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Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease

article

Developing a policy for paediatric biobanks: principles for good practice

artículo científico publicado en 2012

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

artículo científico publicado en 2013

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

artículo científico publicado en 2011

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

artículo científico publicado en 2017

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

artículo científico publicado en 2015

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

article

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

artículo científico publicado en 2014

Provision of genetic services in Europe: current practices and issues

artículo científico publicado en 2003

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

artículo científico publicado en 2006

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

article

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics

artículo científico publicado en 2013

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

artículo científico publicado en 2013