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- 2019
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Mark
Long-term follow-up of retinal function and structure in trpm1-associated complete congenital stationary night blindness
(
- Contribution to journal › Article
- 2018
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Mark
Novel causative variants in patients with achromatopsia
(
- Contribution to journal › Article
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Mark
Congenital stationary night blindness associated with morning glory disc malformation : a novel hemizygous mutation in CACNA1F
(
- Contribution to journal › Letter
- 2015
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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
-
Mark
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
(
- Contribution to journal › Article