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

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

CRELD1 与 VEGFA 等位基因相互作用在心脏房室间隔缺损发病机制中的作用

Jennifer K Redig, Gameil T Fouad, Darcie Babcock, Benjamin Reshey, Eleanor Feingold, Roger H Reeves, Cheryl L Maslen

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

唐氏综合征相关房室间隔缺损中VEGF-A通路基因有害变异过多。

Ackerman, Christine; Locke, Adam E; Feingold, Eleanor; Reshey, Benjamin; Espana, Karina; Thusberg, Janita; Mooney, Sean; Bean, Lora J H; Dooley, Kenneth J; Cua, Clifford L; Reeves, Roger H; Sherman, Stephanie L; Maslen, Cheryl L

Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population

致敏唐氏综合症人群中易患先天性心脏病的遗传修饰因素

Huiqing Li, Sheila Cherry, Donna Klinedinst, Valerie DeLeon, Jennifer Redig, Benjamin Reshey, Michael T Chin, Stephanie L Sherman, Cheryl L Maslen, Roger H Reeves

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

一名患有唐氏综合征和先天性心脏缺陷的患者被发现存在ALK2基因突变

Joziasse, Irene C; Smith, Kelly A; Chocron, Sonja; van Dinther, Maarten; Guryev, Victor; van de Smagt, Jasper J; Cuppen, Edwin; Ten Dijke, Peter; Mulder, Barbara Jm; Maslen, Cheryl L; Reshey, Benjamin; Doevendans, Pieter A; Bakkers, Jeroen