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  • Angela M. Kelle, Samuel J. Bentley, Luis O Rohena, Allison K. Cabalka, Timothy Mark Olson
  • Medicine, Biology
  • American journal of medical genetics. Part A
  • 2016 (First Publication: 1 August 2016)
  • Ebstein anomaly of the tricuspid valve (EA) can be associated with left ventricular non-compaction (LVNC), a rare congenital cardiomyopathy. We report a 2 year-old female with EA and severe tricuspidExpand
  • Carlos R. Ferreira, Zhi-Jie Xia, +51 authors Hudson H. Freeze
  • Biology, Medicine
  • American journal of human genetics
  • 2018 (First Publication: 4 October 2018)
  • The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). WeExpand
  • Hilde van Esch, Rita Colnaghi, +17 authors Mark O’Driscoll
  • Biology, Medicine
  • American journal of human genetics
  • 2019 (First Publication: 2 May 2019)
  • Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achievesExpand