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

Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family

全外显子组测序显示硫酸肝素蛋白聚糖 2 (HSPG2) 是泰国家庭中肾结石疾病的潜在致病基因

Oranud Praditsap #, Nawara Faiza Ahsan #, Choochai Nettuwakul, Nunghathai Sawasdee, Suchai Sritippayawan, Pa-Thai Yenchitsomanus, Nanyawan Rungroj

Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis

与常染色体隐性远端肾小管酸中毒相关的突变肾阴离子交换器 1 蛋白的运输受损和不稳定性

Nipaporn Deejai, Nunghathai Sawasdee, Choochai Nettuwakul, Wanchai Wanachiwanawin, Suchai Sritippayawan, Pa-Thai Yenchitsomanus, Nanyawan Rungroj

A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease

利用DNA微阵列进行全基因组SNP基因分型和候选基因关联研究以诊断肾结石病

Rungroj, Nanyawan; Nettuwakul, Choochai; Sudtachat, Nirinya; Praditsap, Oranud; Sawasdee, Nunghathai; Sritippayawan, Suchai; Chuawattana, Duangporn; Yenchitsomanus, Pa-Thai

Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations

利用基质辅助激光解吸/电离飞行时间质谱法对血红蛋白β基因突变进行简单、高效、经济的多重基因分型

Thongnoppakhun, Wanna; Jiemsup, Surasak; Yongkiettrakul, Suganya; Kanjanakorn, Chompunut; Limwongse, Chanin; Wilairat, Prapon; Vanasant, Anusorn; Rungroj, Nanyawan; Yenchitsomanus, Pa-Thai

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

通过多限制性片段-单链构象多态性(MRF-SSCP)鉴定出的新型和新生PKD1突变

Thongnoppakhun, Wanna; Limwongse, Chanin; Vareesangthip, Kriengsak; Sirinavin, Chintana; Bunditworapoom, Duangkamon; Rungroj, Nanyawan; Yenchitsomanus, Pa-thai