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

Internet use and COVID-19 vaccination attitudes among older adults in Switzerland during the pandemic

新冠疫情期间瑞士老年人的互联网使用情况和新冠疫苗接种态度

Mabillard, Arnaud; Meier, Clément

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

尿源性肾上皮细胞用于法布里病的深度表型分析和转录组治疗反应研究

Sudhindar Praveen Dhondurao, Orr Sarah E, Miller-Hodges Eve, Molinari Elisa, Wood Katrina, Srivastava Shalabh, Miles Colin G, Mabillard Holly R, Sentell Zachary T, Trevisan-Herraz Marco, Arcila-Galvis Juliana E, Sayer John A

28th Annual Conference of the United Mitochondrial Disease Foundation Abstracts - Mitochondrial Medicine 2025 St. Louis, MO – June 18-21, 2025

美国线粒体疾病基金会第28届年会摘要 - 2025年线粒体医学大会,密苏里州圣路易斯市,2025年6月18-21日

Sudhindar, Praveen Dhondurao; Olinger, Eric; Sentell, Zachary T; Mabillard, Holly; Dicka, Barbora; Wood, Katrina; Rutland, Dominic; Collins, Catherine; Trevisan-Herraz, Marco; Sayer, John A; Arcila-Galvis, Juliana E

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

GLP-1受体激动剂——治疗阿尔波特综合征的又一有前景的疗法?

Boeckhaus, Jan; Mabillard, Holly; Sayer, John A

Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant

晚发性肾钙质沉着症和肾结石与杂合CYP24A1致病变异相关

Abouzeina, Marwa; Mead, Paul; Okpongete, Rhema; Mabillard, Holly; Geraghty, Robert; Sayer, John A

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases

ANKS6 变异是产前和新生儿多囊肾的病因

Almohlesy, Lama S; Imtiaz, Faiqa; Tulbah, Maha; Alhashem, Amal; Alhajooj, Manar; Alhashem, Abdullah; Mabillard, Holly; Sayer, John A; Alharbi, Khalid K; Al-Hamed, Mohamed H

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study

常染色体显性遗传性肾小管间质性肾病患者因MUC1基因突变导致COVID-19死亡率增加8倍:一项观察性研究

Kidd, Kendrah O; Williams, Adrienne H; Taylor, Abbigail; Martin, Lauren; Robins, Victoria; Sayer, John A; Olinger, Eric; Mabillard, Holly R; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Conlon, Peter J; Hogan, Richard Edmund; Elhassan, Elhussein A E; Springer, Drahomíra; Zima, Tomáš; Izzi, Claudia; Vrbacká, Alena; Piherová, Lenka; Pohludka, Michal; Radina, Martin; Vylet'al, Petr; Hodanova, Katerina; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J Sr

Explaining Alport syndrome-lessons from the adult nephrology clinic

解释阿尔波特综合征——来自成人肾脏病诊所的经验教训

Mabillard, Holly; Ryan, Rebecca; Tzoumas, Nik; Gear, Susie; Sayer, John A

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

丝氨酸/苏氨酸激酶 NEK8 激酶结构域中的某些杂合变异可导致常染色体显性多囊肾病

Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G Slaats, Alexandra L Hawks, Holly Mabillard, Sarah R Senum, Sujata Srikanth, Heather Flanagan-Steet, Raymond J Louie, Josh Silver, Jordan Lerner-Ellis, Chantal Morel, Chloe Mighton, Frank Sleutels, Marjon van Slegtenhorst, Tjak

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease

常染色体显性遗传性肾小管间质性肾病的临床和遗传谱

Mabillard, Holly; Sayer, John A; Olinger, Eric