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

Novel Missense Variants in TRIM37 Associated with Mulibrey Nanism and Complex Congenital Heart Disease

TRIM37 基因中与穆利布雷侏儒症和复杂性先天性心脏病相关的新型错义变异

Zodanu, Gloria K E; Zeigler, Angela C; Mudery, Jordan; Wolf, Charlotte; Hwang, John H; Kang, Xuedong; Speirs, Amy; Wang, Lee-Kai; Biniwale, Reshma; Si, Ming-Sing; Halnon, Nancy; Satou, Gary M; Grody, Wayne W; Van Arsdell, Glen S; Nelson, Stanly F; Touma, Marlin

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects

全外显子组测序发现右侧先天性心脏缺陷中存在新的GATA5/6变异

Zodanu, Gloria K E; Hwang, John H; Mudery, Jordan; Sisniega, Carlos; Kang, Xuedong; Wang, Lee-Kai; Barsegian, Alexander; Biniwale, Reshma M; Si, Ming-Sing; Halnon, Nancy J; Ucla Congenital Heart Defects-BioCore Faculty; Grody, Wayne W; Satou, Gary M; Van Arsdell, Glen S; Nelson, Stanly F; Touma, Marlin

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

高通量基因组学鉴定出与严重新生儿马凡综合征和先天性心脏缺陷相关的新型FBN1/2变异

Zodanu, Gloria K E; Hwang, John H; Mehta, Zubin; Sisniega, Carlos; Barsegian, Alexander; Kang, Xuedong; Biniwale, Reshma; Si, Ming-Sing; Satou, Gary M; Halnon, Nancy; Ucla Congenital Heart Defect BioCore Faculty; Grody, Wayne W; Van Arsdell, Glen S; Nelson, Stanley F; Touma, Marlin