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

Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr(677TT) Mice.

低膳食叶酸会增加 Mthfr(677TT) 小鼠幼崽的发育迟缓

Christensen Karen E, Faquette Marie-Lou, Keser Vafa, Reagan Alaina M, Gebert Aaron T, Bottiglieri Teodoro, Howell Gareth R, Rozen Rima

Contrasting Effects of Phosphatidylcholine and Betaine Supplementation on Embryonic Development in a Mouse Model of the MTHFD1 R653Q Variant

磷脂酰胆碱和甜菜碱补充剂对MTHFD1 R653Q变异小鼠模型胚胎发育的对比效应

Christensen, Karen E; Faquette, Marie-Lou; Gebert, Aaron T; Keser, Vafa; Bottiglieri, Teodoro; Rozen, Rima

Folic Acid and Methyltetrahydrofolate Supplementation in the Mthfr(677C>T) Mouse Model with Hepatic Steatosis.

在患有肝脂肪变性的 Mthfr(677C>T) 小鼠模型中补充叶酸和甲基四氢叶酸

Christensen Karen E, Faquette Marie-Lou, Leclerc Daniel, Keser Vafa, Luan Yan, Bennett-Firmin Jeanna L, Malysheva Olga V, Reagan Alaina M, Howell Gareth R, Caudill Marie A, Bottiglieri Teodoro, Rozen Rima

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

基于新一代测序技术的视网膜色素变性分子诊断:新型基因型-表型相关性的鉴定及临床改进

Wang, Feng; Wang, Hui; Tuan, Han-Fang; Nguyen, Duy H; Sun, Vincent; Keser, Vafa; Bowne, Sara J; Sullivan, Lori S; Luo, Hongrong; Zhao, Ling; Wang, Xia; Zaneveld, Jacques E; Salvo, Jason S; Siddiqui, Sorath; Mao, Louise; Wheaton, Dianna K; Birch, David G; Branham, Kari E; Heckenlively, John R; Wen, Cindy; Flagg, Ken; Ferreyra, Henry; Pei, Jacqueline; Khan, Ayesha; Ren, Huanan; Wang, Keqing; Lopez, Irma; Qamar, Raheel; Zenteno, Juan C; Ayala-Ramirez, Raul; Buentello-Volante, Beatriz; Fu, Qing; Simpson, David A; Li, Yumei; Sui, Ruifang; Silvestri, Giuliana; Daiger, Stephen P; Koenekoop, Robert K; Zhang, Kang; Chen, Rui

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa

基于新一代测序技术的中国常染色体隐性遗传性视网膜色素变性患者队列分子诊断

Fu, Qing; Wang, Feng; Wang, Hui; Xu, Fei; Zaneveld, Jacques E; Ren, Huanan; Keser, Vafa; Lopez, Irma; Tuan, Han-Fang; Salvo, Jason S; Wang, Xia; Zhao, Li; Wang, Keqing; Li, Yumei; Koenekoop, Robert K; Chen, Rui; Sui, Ruifang

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

利用靶向二代测序技术对179例Leber先天性黑蒙和青少年视网膜色素变性患者进行全面的分子诊断

Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Gerald A; Traboulsi, Elias I; Li, Yumei; Wheaton, Dianna; Koenekoop, Robert K; Chen, Rui