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

Genomics Integration Into Nephrology Practice

将基因组学整合到肾脏病学实践中

Pinto E Vairo, Filippo; Prochnow, Carri; Kemppainen, Jennifer L; Lisi, Emily C; Steyermark, Joan M; Kruisselbrink, Teresa M; Pichurin, Pavel N; Dhamija, Rhadika; Hager, Megan M; Albadri, Sam; Cornell, Lynn D; Lazaridis, Konstantinos N; Klee, Eric W; Senum, Sarah R; El Ters, Mireille; Amer, Hatem; Baudhuin, Linnea M; Moyer, Ann M; Keddis, Mira T; Zand, Ladan; Sas, David J; Erickson, Stephen B; Fervenza, Fernando C; Lieske, John C; Harris, Peter C; Hogan, Marie C

A case of a large leiomyomatous uterus with multiple arteriovenous malformations and subsequent high cardiac output state with severe four chamber cardiac enlargement

一例巨大子宫肌瘤伴多发性动静脉畸形,继而导致高心输出量状态和严重四腔心脏扩大的病例报告

Vega, Beatriz; Stockland, Andrew H; Bramblet, Rachel M; Anderson, Alexandra L; Mankad, Rekha; Khan, Zaraq; Mustafa, Mohamed; Steyermark, Joan M; Fields, Amanda R; Berntson, Novette J; Kenneth Schoolmeester, J; Colglazier, Jill J; Bakkum-Gamez, Jamie N

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

FUT8 中的双等位基因突变导致先天性糖基化障碍,伴有岩藻糖基化缺陷

Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

女性UDP-半乳糖转运蛋白SLC35A2嵌合体导致先天性糖基化障碍:病例报告

Westenfield, Kristen; Sarafoglou, Kyriakie; Speltz, Laura C; Pierpont, Elizabeth I; Steyermark, Joan; Nascene, David; Bower, Matthew; Pierpont, Mary Ella

Quantitative evolutionary design of nutrient processing: glucose

营养物质加工的定量进化设计:葡萄糖

Steyermark, Anthony C; Lam, Mandy M; Diamond, Jared