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New England Journal of Medicine, ISSN 0028-4793, 05/2015, Volume 372, Issue 20, pp. 1887 - 1897
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 5, pp. 591 - 599
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Journal of Medical Genetics, ISSN 0022-2593, 2017, Volume 54, Issue 9, pp. 624 - 632
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Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 6, pp. 1375 - 1385
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