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

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

High Prevalence of Abnormal Baseline Lung Function in Pediatric and Young Adult Hematopoietic Stem Cell Transplant Recipients: A Report from the TRANSPIRE Study

儿童和青少年造血干细胞移植受者中异常基线肺功能发生率高:来自 TRANSPIRE 研究的报告

Koo, Jane; Cooper, Richard; Edwards, Stephanie L; Lane, Adam; Loveless, Sara Katherine; Strecker, Lauren; Lake, Kelly E; Myers, Kasiani C; Towe, Christopher; Patti, Jessica; Walkup, Laura L; Wikenheiser-Brokamp, Kathryn A; MacMillan, Margaret L; Lacher, Philip; Griffin, Tamara; Tekman, Merve; Cisneros, Gabriel Salinas; Wu, Kevin; Zinter, Matthew S; Urrego, Fernando A; Baker, K Scott; Abts, Matthew F; Ballard, Sheri; Freedman, Jason L; Caraballo, Alexander; Young, Lisa R; Josephson, Maureen B; Allen, Julian L; Camburn, Devaney M; Doherty, Erin E; Azamian, Mashid Sababi; Arredondo, Martha; Silva-Carmona, Manuel; Lehmann, Leslie E; Wong, Wai; Gaffin, Jonathan M; McAlpine, William; Li, Mona; Goldfarb, Samuel B; Woods, Jason C; Davies, Stella M

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 WD40重复结构域的变异会损害纤毛发生起始,从而导致一系列纤毛病。

Andrea Accogli # ,Saurabh Shakya # ,Taewoo Yang # ,Christine Insinna ,Soo Yeon Kim ,David Bell ,Kirill R Butov ,Mariasavina Severino ,Marcello Niceta ,Marcello Scala ,Hyun Sik Lee ,Taekyeong Yoo ,Jimmy Stauffer ,Huijie Zhao ,Chiara Fiorillo ,Marina Pedemonte ,Maria C Diana ,Simona Baldassari ,Viktoria Zakharova ,Anna Shcherbina ,Yulia Rodina ,Christina Fagerberg ,Laura Sønderberg Roos ,Jolanta Wierzba ,Artur Dobosz ,Amanda Gerard ,Lorraine Potocki ,Jill A Rosenfeld ,Seema R Lalani ,Tiana M Scott ,Daryl Scott ,Mahshid S Azamian ,Raymond Louie ,Hannah W Moore ,Neena L Champaigne ,Grace Hollingsworth ,Annalaura Torella ,Vincenzo Nigro ,Rafal Ploski ,Vincenzo Salpietro ,Federico Zara ,Simone Pizzi ,Giovanni Chillemi ,Marzia Ognibene ,Erin Cooney ,Jenny Do ,Anders Linnemann ,Martin J Larsen ,Suzanne Specht ,Kylie J Walters ,Hee-Jung Choi ,Murim Choi ,Marco Tartaglia ,Phillippe Youkharibache ,Jong-Hee Chae ,Valeria Capra ,Sung-Gyoo Park ,Christopher J Westlake

The effect of synbiotic supplementation on plasma levels of advanced glycation end products and cardiovascular risk factors in hemodialysis patients: A double-blind clinical trial

益生菌补充剂对血液透析患者血浆中晚期糖基化终产物水平和心血管危险因素的影响:一项双盲临床试验

Azamian, Yasaman; Abdollahzad, Hadi; Rezaeian, Shahab; Rouhani, Mohammad Hossein; Fatehi, Mohammad Hossein

The Efficacy of Probiotics Supplementation on the Quality of Life of Patients with Gastrointestinal Disease: A Systematic Review of Clinical Studies

益生菌补充剂对胃肠道疾病患者生活质量的影响:临床研究的系统评价

Moludi, Jalal; Saber, Amir; Zozani, Morteza Arab; Moradi, Shima; Azamian, Yasaman; Hajiahmadi, Salimeh; Pasdar, Yahya; Moradi, Fardin

Evaluation of the efficacy and safety of rivaroxaban compared to warfarin in patients with left ventricular apical thrombus: a randomized clinical trial

评估利伐沙班与华法林治疗左心室心尖血栓患者的疗效和安全性:一项随机临床试验

Mansouri, Pejman; Jazi, Zahra Azamian; Mansouri, Mohammad Hadi; Dehghan, Hooman; Zavar, Reihaneh; Hashemi, Seyedeh Melika; Sattar, Fereshteh; Sadeghi, Masoumeh; Amirpour, Afshin; Abdar, Morteza

The Effect of Synbiotic Supplementation on Bone Complications, Anemia, and Gastrointestinal Function in Hemodialysis Patients: A Double-Blind Randomized Clinical Trial

益生菌补充剂对血液透析患者骨骼并发症、贫血和胃肠功能的影响:一项双盲随机临床试验

Azamian, Yasaman; Abdollahzad, Hadi; Rezaeian, Shahab; Rouhani, Mohammad Hossein; Fatehi, Mohammad Hossein

Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

MRC2基因罕见变异与家族性室上性心动过速和沃尔夫-帕金森-怀特综合征相关

Potter, Adam S; Miyake, Christina Y; Gonzaga-Jauregui, Claudia; Aguilar-Sanchez, Yuriana; Hulsurkar, Mohit M; Lahiri, Satadru K; Moreira, Lucia M; Mehta, Neelam; Azamian, Mahshid S; Lupski, James R; Reilly, Svetlana; Lalani, Seema R; Wehrens, Xander H T

Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism

脂质稳态缺陷反映了 TANGO2 在磷脂和中性脂质代谢中的作用

Agustin Leonardo Lujan, Ombretta Foresti, Conor Sugden, Nathalie Brouwers, Alex Mateo Farre, Alessio Vignoli, Mahshid Azamian, Alicia Turner, Jose Wojnacki, Vivek Malhotra

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

TANGO2 缺乏症的自然病程:73 例患者的基线评估

Miyake, Christina Y; Lay, Erica J; Soler-Alfonso, Claudia; Glinton, Kevin E; Houck, Kimberly M; Tosur, Mustafa; Moran, Nancy E; Stephens, Sara B; Scaglia, Fernando; Howard, Taylor S; Kim, Jeffrey J; Pham, Tam Dam; Valdes, Santiago O; Li, Na; Murali, Chaya N; Zhang, Lilei; Kava, Maina; Yim, Deane; Beach, Cheyenne; Webster, Gregory; Liberman, Leonardo; Janson, Christopher M; Kannankeril, Prince J; Baxter, Samantha; Singer-Berk, Moriel; Wood, Jordan; Mackenzie, Samuel J; Sacher, Michael; Ghaloul-Gonzalez, Lina; Pedroza, Claudia; Morris, Shaine A; Ehsan, Saad A; Azamian, Mahshid S; Lalani, Seema R