日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

一种导致血清α(1)-抗胰蛋白酶缺乏的新型SERPINA1突变

Saunders Darren N, Tindall Elizabeth A, Shearer Robert F, Roberson Jacquelyn, Decker Amy, Wilson Jean Amos, Hayes Vanessa M

Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project

对 107 个 CYP2D6、CYP2C19、CYP2C9、VKORC1 和 UGT1A1 基因组 DNA 参考物质进行表征:GeT-RM 和分子病理学协会合作项目

Pratt, Victoria M; Zehnbauer, Barbara; Wilson, Jean Amos; Baak, Ruth; Babic, Nikolina; Bettinotti, Maria; Buller, Arlene; Butz, Ken; Campbell, Matthew; Civalier, Chris; El-Badry, Abdalla; Farkas, Daniel H; Lyon, Elaine; Mandal, Saptarshi; McKinney, Jason; Muralidharan, Kasinathan; Noll, LeAnne; Sander, Tara; Shabbeer, Junaid; Smith, Chingying; Telatar, Milhan; Toji, Lorraine; Vairavan, Anand; Vance, Carlos; Weck, Karen E; Wu, Alan H B; Yeo, Kiang-Teck J; Zeller, Markus; Kalman, Lisa

Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent

开发用于检测阿什肯纳兹犹太人后裔常见疾病的基因组DNA参考材料

Kalman, Lisa; Wilson, Jean Amos; Buller, Arlene; Dixon, John; Edelmann, Lisa; Geller, Louis; Highsmith, William Edward; Holtegaard, Leonard; Kornreich, Ruth; Rohlfs, Elizabeth M; Payeur, Toby L; Sellers, Tina; Toji, Lorraine; Muralidharan, Kasinathan

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings

分子遗传学检测的订购和结果报告:实验室和临床环境中的实践

Lubin, Ira M; Caggana, Michele; Constantin, Carolyn; Gross, Susan J; Lyon, Elaine; Pagon, Roberta A; Trotter, Tracy L; Wilson, Jean Amos; McGovern, Margaret M

Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing

设计、开发、验证和使用合成核酸对照品进行诊断,并应用于囊性纤维化检测

Christensen, Todd M; Jama, Mohamed; Ponek, Victor; Lyon, Elaine; Wilson, Jean Amos; Hoffmann, Marcy L; Bejjani, Bassem A