Search Results - "Snowdowne, Ronelle"
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Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue
Published in The Journal of molecular diagnostics : JMD (01-03-2015)“…Differentiating primary endometrioid or mucinous ovarian tumors from secondary ovarian tumors can be challenging. We compared somatic mutation profiles of…”
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Journal Article -
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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Published in Human mutation (01-11-2013)“…De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS),…”
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Journal Article