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

Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project

TPMT 和 NUDT15 参考材料表征:GeT-RM 合作项目

Victoria M Pratt, Wendy Y Wang, Erin C Boone, Ulrich Broeckel, Neal Cody, Lisa Edelmann, Andrea Gaedigk, Ty C Lynnes, Elizabeth B Medeiros, Ann M Moyer, Matthew W Mitchell, Stuart A Scott, Petr Starostik, Amy Turner, Lisa V Kalman0

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

CYP2C 基因座的结构变异:缺失和重复等位基因的表征

Mariana R Botton, Xingwu Lu, Geping Zhao, Elena Repnikova, Yoshinori Seki, Andrea Gaedigk, Eric E Schadt, Lisa Edelmann, Stuart A Scott

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion

Bardet-Biedl 综合征 9 (BBS9) 缺失的细胞基因组学鉴定和长读单分子实时 (SMRT) 测序

Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang, Lisong Shi, Wahab A Khan, Robert Sebra, Ninette Cohen, Arvind Babu, Lisa Edelmann, Ethylin Wang Jabs, Stuart A Scott