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

Characterization of an induced pluripotent stem cell line NCHi025-A from a 1-year-old female with pulmonary stenosis harboring a heterozygous HAND2 variant.

对来自一名患有肺动脉狭窄且携带杂合 HAND2 变异的 1 岁女性的诱导多能干细胞系 NCHi025-A 进行表征

Argall Aaron, Ye Shiqiao, Moccia Amanda, Stone Brandon, Hunter Jesse, Garg Vidu, Zhao Ming-Tao

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

CHARGE综合征的根本原因是共转录选择性剪接失调

Bélanger Catherine, Bérubé-Simard Félix-Antoine, Leduc Elizabeth, Bernas Guillaume, Campeau Philippe M, Lalani Seema R, Martin Donna M, Bielas Stephanie, Moccia Amanda, Srivastava Anshika, Silversides David W, Pilon Nicolas

Genotype-phenotype correlations in individuals with pathogenic RERE variants

致病性RERE变异个体的基因型-表型相关性

Jordan, Valerie K; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J; Balci, Tugce B; Carter, Melissa T; Bernat, John A; Moccia, Amanda N; Srivastava, Anshika; Martin, Donna M; Bielas, Stephanie L; Pappas, John; Svoboda, Melissa D; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M; Scaglia, Fernando; Kohler, Jennefer N; Bernstein, Jonathan A; Dries, Annika M; Rosenfeld, Jill A; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H; Bi, Weimin; Scott, Daryl A

Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers

神经系统发育与疾病:聚焦于三胸相关蛋白和染色质重塑因子

Moccia, Amanda; Martin, Donna M