Marquis-Nicholson, Renate, Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
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Sultan Qaboos University Medical Journal Vol. 13 No. 1 (2013): February - Original Studies
Array-based Identification of Copy Number Changes in a Diagnostic Setting : Simultaneous gene-focused and low resolution whole human genome analysis
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Sultan Qaboos University Medical Journal Vol. 13 No. 1 (2013): February - Original Studies
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
Abstract PDF