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European Journal of Human Genetics, ISSN 1018-4813, 05/2017, Volume 25, Issue 5, pp. 591 - 599
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 250 - 257
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 5, pp. 591 - 599
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Human Mutation, ISSN 1059-7794, 07/2018, Volume 39, Issue 7, pp. 1014 - 1023
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Human Mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1226 - 1237
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European journal of human genetics, ISSN 1018-4813, 2012, Volume 20, Issue 6, pp. 598 - 606
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American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 3, pp. 461 - 475
Journal Article