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

Two commonly reported incidental variants in OTC are associated with late-onset disease

OTC基因中两种常见的偶然变异与晚发性疾病相关。

Lang, Steven H; Lo, Russell S; Cromie, Gareth A; Dudley, Aimée M; Mew, Nicholas Ah; Simpson, Kara; Sutton, Vernon Reid; Darilek, Sandra; Ali, Saima; Snyder, Matthew T; Lee, Brendan; Marom, Ronit; Nagamani, Sandesh C S; Burrage, Lindsay C

Spatial gene regulatory networks driving cell state transitions during human liver disease.

人类肝脏疾病中驱动细胞状态转变的空间基因调控网络

Hammond Nigel L, Murtuza Baker Syed, Georgaka Sokratia, Al-Anbaki Ali, Jokl Elliot, Simpson Kara, Sanchez-Alvarez Rosa, Athwal Varinder S, Purssell Huw, Siriwardena Ajith K, Spiers Harry V M, Dixon Mike J, Bere Leoma D, Jones Adam P, Haley Michael J, Couper Kevin N, Bobola Nicoletta, Sharrocks Andrew D, Hanley Neil A, Rattray Magnus, Piper Hanley Karen

SOX9 plays an essential role in myofibroblast driven hepatic granuloma integrity and parenchymal repair during schistosomiasis-induced liver damage.

SOX9 在血吸虫病引起的肝损伤中,在肌成纤维细胞驱动的肝肉芽肿完整性和实质修复中起着至关重要的作用

Su Kim, Jokl Elliot, Costain Alice, Simpson Kara, Cheeseman Antonn, Phythian-Adams Alexander, Couper Kevin N, MacDonald Andrew S, Piper Hanley Karen

Arthropod abundances track soil fertility across a lowland tropical forest landscape

节肢动物的丰度反映了低地热带森林景观中土壤肥力的变化

Butler, Orpheus M; Sanchez, Vanessa; Simpson, Kara J; Windsor, Donald

Orthotopic Liver Transplantation in a Patient With GALTp.Ser135Leu/Null

GALTp.Ser135Leu/Null 患者的原位肝移植

Simpson, Kara; MacLeod, Erin L; Clayton, Julia; Yazigi, Nada A; Rubio-Gozalbo, M Estela; Fridovich-Keil, Judith L; Berry, Gerard T; Ah Mew, Nicholas

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia

FGFR1相关骨球蛋白发育不良症的新表型特征

Othman, Amna A; Babcock, Holly E; Gill, Corey S; Fraser, Jamie L; Regier, Debra S; Kaur, Rajdeep; Simpson, Kara L; Ferreira, Carlos R

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

高剂量氟卡尼治疗先天性肌强直/新生儿严重阵发性喉痉挛(由SCN4A G1306E突变引起)的症状:病例报告

Ogueri, Vanessa; Chong, Jessica; Fleming, Melissa; Simpson, Kara; Sherwin, Elizabeth; Bharucha-Goebel, Diana; Spurney, Christopher

Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders

一项针对尿素循环障碍儿童和成人的系统评估队列研究,旨在探讨其健康相关生活质量。

Murali, Chaya N; Barber, John R; McCarter, Robert; Zhang, Anqing; Gallant, Natalie; Simpson, Kara; Dorrani, Naghmeh; Wilkening, Greta N; Hays, Ron D; Lichter-Konecki, Uta; Burrage, Lindsay C; Nagamani, Sandesh C S

Substrate for the Myocardial Inflammation-Heart Failure Hypothesis Identified Using Novel USPIO Methodology

利用新型超顺磁性氧化铁纳米颗粒(USPIO)方法鉴定心肌炎症-心力衰竭假说的基质

Lagan, Jakub; Naish, Josephine H; Simpson, Kara; Zi, Min; Cartwright, Elizabeth J; Foden, Phil; Morris, Julie; Clark, David; Birchall, Lindsay; Caldwell, Jessica; Trafford, Andrew; Fortune, Christien; Cullen, Michael; Chaudhuri, Nazia; Fildes, James; Sarma, Jaydeep; Schelbert, Erik B; Schmitt, Matthias; Piper Hanley, Karen; Miller, Christopher A

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E