Výsledky vyhledávání - "Courtney M. Bellomo"

Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding

Autor: Mihir Raval, Courtney M. Bellomo, Farrell C Sheehan, Zaker I Schwabkey

Publikováno v: BMJ Case Rep

A 26-year-old woman was found to have congenital dysfibrinogenaemia after presenting to our hospital with premature rupture of the membranes and vaginal bleeding. Given the absence of clear guidelines for the management of pregnancy complicated by dy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2010b12f5262e1108247f66188a92b
https://europepmc.org/articles/PMC7511613/

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A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

Autor: Suneet Agarwal, Courtney M. Bellomo, Corey Cutler, Baris Boyraz, Mark D. Fleming

Publikováno v: Blood. 128:2089-2092

To the editor: Mutations in genes involved in telomere maintenance are implicated in a broad range of degenerative disorders collectively known as telomere diseases.[1][1],[2][2] Their clinical presentations extend from severe childhood syndromes suc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a022404f45538f4b27e6d43109f701d
https://doi.org/10.1182/blood-2016-04-710160

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