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

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

TREX1 外切酶活性异常但完整,会导致人类脑部和全身小血管疾病

McGlasson Sarah, Reid Katy, Klingseisen Anna, Rioux Bastien, Chauvin Samuel, Miner Cathrine A, Holley Joe, Forbes Deborah, Geary Bethany, Kimber Jeffrey, Wood Katrina, Roufosse Candice, Smith Colin, Kavanagh David, Miner Jonathan, Hunt David P J

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

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy

尿路肾脏上皮细胞可用于NPHP1表型分析和个体化治疗策略。

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

Women's experiences and expectations during the menopause transition: a systematic qualitative narrative review

女性更年期过渡期的经历和期望:一项系统性的定性叙述性综述

Wood, Katrina; McCarthy, Simone; Pitt, Hannah; Randle, Melanie; Thomas, Samantha L

"It's all about the money." Australian women's perspectives about menopause and the commercial determinants of health

“一切都与金钱有关。”澳大利亚女性对更年期和影响健康的商业因素的看法

Wood, Katrina; McCarthy, Simone; Pitt, Hannah; Randle, Melanie; Arnot, Grace; Thomas, Samantha

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

由m.3243A>T变异引起的线粒体疾病的严重临床表现:一例早发、多器官受累和过早死亡的病例报告

Gillespie, Hannah; Ng, Yi Shiau; Wood, Katrina M; Hopton, Sila; Alston, Charlotte L; Blakely, Emma L; Thompson, Nick; Taylor, Robert W; Browning, Andrew C; McFarland, Robert; Sayer, John A

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure

肾衰竭患者中与NPHP1基因纯合全基因缺失相关的多种视网膜-肾脏表型

Esson, Gavin; Logan, Ian; Wood, Katrina; Browning, Andrew C; Sayer, John A

Genomic abnormalities of TP53 define distinct risk groups of paediatric B-cell non-Hodgkin lymphoma

TP53基因的基因组异常定义了儿童B细胞非霍奇金淋巴瘤的不同风险组

Newman, Alexander M; Zaka, Masood; Zhou, Peixun; Blain, Alex E; Erhorn, Amy; Barnard, Amy; Crossland, Rachel E; Wilkinson, Sarah; Enshaei, Amir; De Zordi, Julian; Harding, Fiona; Taj, Mary; Wood, Katrina M; Televantou, Despina; Turner, Suzanne D; Burke, G A Amos; Harrison, Christine J; Bomken, Simon; Bacon, Chris M; Rand, Vikki

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

TULP3基因突变导致儿童和成人出现进行性肝脏、肾脏和心脏退化

Devane, John; Ott, Elisabeth; Olinger, Eric G; Epting, Daniel; Decker, Eva; Friedrich, Anja; Bachmann, Nadine; Renschler, Gina; Eisenberger, Tobias; Briem-Richter, Andrea; Grabhorn, Enke Freya; Powell, Laura; Wilson, Ian J; Rice, Sarah J; Miles, Colin G; Wood, Katrina; Trivedi, Palak; Hirschfield, Gideon; Pietrobattista, Andrea; Wohler, Elizabeth; Mezina, Anya; Sobreira, Nara; Agolini, Emanuele; Maggiore, Giuseppe; Dahmer-Heath, Mareike; Yilmaz, Ali; Boerries, Melanie; Metzger, Patrick; Schell, Christoph; Grünewald, Inga; Konrad, Martin; König, Jens; Schlevogt, Bernhard; Sayer, John A; Bergmann, Carsten

Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease

TTC21B基因的双等位基因变异是导致早发性动脉高血压和肾小管肾病的一种罕见病因。

Olinger, Eric; Phakdeekitcharoen, Pran; Caliskan, Yasar; Orr, Sarah; Mabillard, Holly; Pickles, Charles; Tse, Yincent; Wood, Katrina; Sayer, John A