Výsledky vyhledávání - "Gretchen Thone"

Akademický článek

P120: Prevalence of malignant hyperthermia symptoms in patients receiving RYR1 results through a population genomic screening program

Autor: Kristen Yu, Megan Betts, Gretchen Thone, Marci Schwartz, Tanisha Robinson, Robert Moyer, Scott Taddonio, Anasuya Vasudevan, Alicia Johns, Amy Sturm, Marc Williams, S. Mark Poler, Adam Buchanan

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100149- (2023)

Externí odkaz: https://doaj.org/article/287f0337ca4b49099727544415bbd85f

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Experience Completing Population Screening for Variants Associated With Endocrine Tumor Syndromes in a Large, Healthcare-Based Cohort

Autor: Whitney S McDonald, Adam H. Buchanan, Juliann M. Savatt, Timothy L. Lindemann, Nicholas Purdy, Gretchen Thone, Madiha M Alvi, Nicole M Deckard, Amy C. Sturm

Publikováno v: Journal of the Endocrine Society

Hereditary endocrine tumor syndromes (ETS) including Multiple Endocrine Neoplasia Types 1 and 2 (MEN1 and MEN2), von Hippel-Lindau (VHL), and Hereditary Paraganglioma and Pheochromocytoma syndromes (PGL/PCC) have a collective prevalence of 1 in 8500.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3880356bd72e7051fc18ca86575cc2cd
https://doi.org/10.1210/jendso/bvab048.1026

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