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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
-
Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
- 2015
-
Mark
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
(
- Contribution to journal › Article
-
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