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

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

MRPL44基因的致病性变异会导致婴儿心肌病,这是由于线粒体翻译缺陷所致。

Friederich, Marisa W; Geddes, Gabrielle C; Wortmann, Saskia B; Punnoose, Ann; Wartchow, Eric; Knight, Kaz M; Prokisch, Holger; Creadon-Swindell, Geralyn; Mayr, Johannes A; Van Hove, Johan L K

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

非酮症高甘氨酸血症预后的生化和分子预测因素

Michael A Swanson, Curtis R Coughlin Jr, Gunter H Scharer, Heather J Szerlong, Kendra J Bjoraker, Elaine B Spector, Geralyn Creadon-Swindell, Vincent Mahieu, Gert Matthijs, Julia B Hennermann, Derek A Applegarth, Jennifer R Toone, Suhong Tong, Kristina Williams, Johan L K Van Hove

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

ALDH7A1基因突变引起的吡哆醇依赖性癫痫的基因型和表型谱

Scharer, Gunter; Brocker, Chad; Vasiliou, Vasilis; Creadon-Swindell, Geralyn; Gallagher, Renata C; Spector, Elaine; Van Hove, Johan L K

Sequencing heavy- and light-chain variable genes of single B-hybridoma cells by total enzymatic amplification

利用全酶扩增法对单个B细胞杂交瘤细胞的重链和轻链可变区基因进行测序

Liu, A H; Creadon, G; Wysocki, L J

Glutathione S-transferases of mouse lung. Selective binding of benzo[a]pyrene metabolites by the subunits which are preferentially induced by t-butylated hydroxyanisole

小鼠肺谷胱甘肽S-转移酶。亚基对苯并[a]芘代谢物的选择性结合,这些亚基优先被叔丁基羟基茴香醚诱导。

Singh, S V; Creadon, G; Das, M; Mukhtar, H; Awasthi, Y C