日期:
2020 年 — 2026 年
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November Industry News

11月行业新闻

Goldlust, Ian S; Gormally, Michael V; Teichholtz, Sara; Turriff, Amy E; Harding, James J; Bianchi, Diana W; McCartney, Fiona

Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review

日本、荷兰和美国无创产前检测(NIPT)的引入和实施情况比较:一项综合性综述

Connor, Chloe; Sato, Taisuke; Bianchi, Diana W; Fenton, Kathleen; Somani, Elika; Turriff, Amy; Berkman, Benjamin; Hendriks, Saskia

Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer

产前cfDNA测序和母体癌症的意外发现

Turriff, Amy E; Annunziata, Christina M; Malayeri, Ashkan A; Redd, Bernadette; Pavelova, Miroslava; Goldlust, Ian S; Rajagopal, Padma Sheila; Lin, Jielu; Bianchi, Diana W

Patient Perceptions of Emerging Gene Therapies for Arrhythmogenic Right Ventricular Cardiomyopathy

患者对新兴基因疗法治疗致心律失常性右室心肌病的看法

Schopp, Emma M; Okwara, Leonore; Tichnell, Crystal; Turriff, Amy; Murray, Brittney; Barth, Andreas S; Calkins, Hugh; Jamal, Leila; James, Cynthia A

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

研究影响黄斑发育不全患者视力的决定因素并评估深度学习训练方法

Malechka, Volha V; Duong, Dat; Bordonada, Keyla D; Turriff, Amy; Blain, Delphine; Murphy, Elizabeth; Introne, Wendy J; Gochuico, Bernadette R; Adams, David R; Zein, Wadih M; Brooks, Brian P; Huryn, Laryssa A; Solomon, Benjamin D; Hufnagel, Robert B

Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates

ABCA4视网膜病变视觉功能障碍的自然史及其遗传相关性

Pfau, Maximilian; Huryn, Laryssa A; Boyle, Marisa P; Cukras, Catherine A; Zein, Wadih M; Turriff, Amy; Ullah, Ehsan; Hufnagel, Robert B; Jeffrey, Brett G; Brooks, Brian P

Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis

患者对提示母体癌症的产前筛查结果的看法:一项定性分析

Turriff, Amy; Miner, Skye A; Annunziata, Christina M; Bianchi, Diana W

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

LRP2基因的变体编码一种多功能细胞表面内吞受体,与听力损失和视网膜营养不良有关。

Faridi, Rabia; Yousaf, Rizwan; Gu, Shoujun; Inagaki, Sayaka; Turriff, Amy E; Pelstring, Keith; Guan, Bin; Naik, Amelia; Griffith, Andrew J; Adadey, Samuel Mawuli; Aboagye, Elvis Twumasi; Awandare, Gordon A; Morell, Robert J; Tsilou, Ekaterini; Noyes, Amanda G; Sulmonte, Laura A G; Wonkam, Ambroise; Schrauwen, Isabelle; Leal, Suzanne M; Azaiez, Hela; Brewer, Carmen C; Riazuddin, Sheikh; Hufnagel, Robert B; Hoa, Michael; Zein, Wadih M; de Dios, J Karl; Friedman, Thomas B

Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women

产前DNA测序检测胎儿非整倍体也可发现母体癌症:及时检查和管理对孕妇的重要性

Turriff, Amy E; Annunziata, Christina M; Bianchi, Diana W

Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide

与信号肽受损相关的早发性TIMP3相关性视网膜病变

Guan, Bin; Huryn, Laryssa A; Hughes, Andrew B; Li, Zhiyu; Bender, Chelsea; Blain, Delphine; Turriff, Amy; Cukras, Catherine A; Hufnagel, Robert B