Výsledky vyhledávání - "Paige Hazelton"

Akademický článek

P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

Autor: Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101305- (2024)

Externí odkaz: https://doaj.org/article/a7d31b019bb94b6199c21f4ba538c188

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Beyond Diagnostic Yield: Prenatal Exome Sequencing Results in Maternal, Neonatal, and Familial Clinical Management Changes

Autor: Leandra K. Tolusso, Paige Hazelton, Beatrix Wong, Daniel T. Swarr

Publikováno v: Obstetrical & Gynecological Survey. 76:663-664

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d99117f26ea77c8bd5171a4cfe65ea8a
https://doi.org/10.1097/01.ogx.0000797004.90781.6e

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Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes

Autor: Paige Hazelton, Daniel T. Swarr, Leandra K. Tolusso, Beatrix Wong

Publikováno v: Genetics in Medicine

Purpose Previous studies have reported that prenatal exome sequencing (pES) can detect monogenic diseases in fetuses with congenital anomalies with diagnostic yields ranging from 6% to 81%, but there are few reports of its clinical utility. Methods W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d5fd07cea57051307d4430ab0c09105
https://pubmed.ncbi.nlm.nih.gov/33442022

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