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Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 11/2010, Volume 154C, Issue 4, pp. 477 - 485
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2017, Volume 54, Issue 8, pp. 521 - 529
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2012, Volume 20, Issue 6, pp. 639 - 644
Journal Article