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Human Molecular Genetics, ISSN 0964-6906, 1/2012, Volume 21, Issue 1, pp. 10 - 25
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Nature Genetics, ISSN 1061-4036, 01/2010, Volume 42, Issue 1, pp. 27 - 29
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European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 183 - 190
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The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 3, pp. 457 - 466
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1772 - 1779
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Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
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Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 760 - 772
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