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- 2019
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2017
-
Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
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Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
- 2015
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Mark
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
2015) In European Journal of Human Genetics(
- Contribution to journal › Article
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Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
(
- Contribution to journal › Article
- 2011
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Mark
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
(
- Contribution to journal › Article
- 2003
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Mark
Provision of genetic service in Europe: current practices and issues.
(
- Contribution to journal › Article
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Mark
Population genetic screening programmes: technical, social, and ethical issues.
(
- Contribution to journal › Article
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Mark
Data storage and DNA banking for biomedical research: technical, social and ethical issues.
(
- Contribution to journal › Article
-
Mark
Genetic information and testing insurance and employment: technical, social, and ethical issues.
(
- Contribution to journal › Article