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- 2019
-
Mark
Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
(
- Contribution to journal › Scientific review
- 2010
-
Mark
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
(
- Contribution to journal › Article
- 2009
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Mark
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
(
- Contribution to journal › Article
-
Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article