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DIS3Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis

Autor: Johnstone, Erica Boiman, Gorsi, Bushra, Coelho, Emily, Moore, Barry, Farr, Ashley M, Cooper, Amber R, Mardis, Elaine R, Rajkovic, Aleksander, Chow, Clement Y, Yandell, Mark, Welt, Corrine K

Publikováno v: The Journal of Clinical Endocrinology & Metabolism; September 2023, Vol. 108 Issue: 9 p2330-2335, 6p

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Importation of plasma and use of apheresis platelets as risk reduction measures for variant Creutzfeldt‐Jakob disease: The SaBTO review.

Autor: Thomas, Stephen, Katz, Matthew, Slowther, Anne‐Marie, Coelho, Emily, Mallinson, Gary, Brailsford, Susan, Knight, Richard, Manson, Lynn, Miflin, Gail, New, Helen, Mason, James, Wallis, Jonathan, Hollis, Gillian, Field, Stephen

Publikováno v: Transfusion Medicine; Feb2022, Vol. 32 Issue 1, p24-31, 8p, 5 Charts

Drosophila models of PIGA-CDG mirror patient phenotypes.

Autor: Thorpe HJ; Department of Human Genetics, University of Utah School of Medicine., Owings KG; Department of Human Genetics, University of Utah School of Medicine., Aziz MC; Department of Human Genetics, University of Utah School of Medicine., Haller M; Department of Human Genetics, University of Utah School of Medicine., Coelho E; Department of Human Genetics, University of Utah School of Medicine., Chow CY; Department of Human Genetics, University of Utah School of Medicine.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Oct 27. Date of Electronic Publication: 2023 Oct 27.