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A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker by Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George
Published 2014-01-01
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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert
Published 2015-01-01
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