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

A review of technical steps in the performance of arteriovenous fistula creation

对动静脉瘘成形术技术步骤的回顾

Edgar, Ben; Stevenson, Karen; Aitken, Emma; Jackson, Andrew; Thomas, Shannon; Snoeijs, Maarten; Franchin, Marco; Tozzi, Matteo; Kingsmore, David B

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Yoo-Jin Jiny Ha ,Ashna Nisal,Isaac Tang,Chanjae Lee,Ishani Jhamb,Cassidy Wallace,Robyn Howarth,Sarah Schroeder,Keng Ioi Vong,Naomi Meave,Fiza Jiwani,Chelsea Barrows,Sangmoon Lee,Nan Jiang,Arzoo Patel,Krisha Bagga,Niyati Banka,Liana Friedman,Francisco A Blanco,Seyoung Yu,Soeun Rhee,Hui Su Jeong ,Isaac Plutzer,Michael B Major,Béatrice Benoit,Christian Poüs,Caleb Heffner,Zoha Kibar,Gyang Markus Bot,Hope Northrup,Kit Sing Au,Madison Strain,Allison E Ashley-Koch,Richard H Finnell,Joan T Le,Hal S Meltzer,Camila Araujo,Helio R Machado,Roger E Stevenson,Anna Yurrita,Sara Mumtaz,Awais Ahmed,Mulazim Hussain Khara,Osvaldo M Mutchinick,José Ramón Medina-Bereciartu,Friedhelm Hildebrandt,Gia Melikishvili,Ahmed I Marwan,Valeria Capra,Mahmoud M Noureldeen,Aida M S Salem,Mahmoud Y Issa,Maha S Zaki,Libin Xu,Ji Eun Lee,Donghyuk Shin,Anna Alkelai,Alan R Shuldiner,Stephen F Kingsmore,Stephen A Murray,Heon Yung Gee,W Todd Miller,Kimberley F Tolias,John B Wallingford  ; Spina Bifida Sequencing Consortium; Sangwoo Kim ,Joseph G Gleeson

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.

神经发育障碍的表型脑类器官图谱和生物样本库。

Wang Lu, Nakamura Yuji, Li Junhao, Sievert David, Liu Yang, Nguyen Toan, Jetti Prudhvi Sai, Thai Ethan, Zhou Rachel Yibei, Weng Jiaming, Meave Naomi, Yadavilli Manya, Howarth Robyn, Camey Kevin, Banka Niyati, Owusu-Hammond Charlotte, Barrows Chelsea, Kingsmore Stephen F, Zaki Maha S, Mukamel Eran, Gleeson Joseph G

Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis

体液免疫蛋白与脓毒症死亡率的系统评价和荟萃分析

Villa, Antoine; Dewar, Fiona; Pisciotta, Walter; Rai, Ankit; Kerneis, Sven; Batum, Gül; McDonnell, Tom; Scully, Marie; McHugh, Timothy D; Hilpert, Kai; Gilroy, Derek; de Nooijer, Aline; Netea, Mihai G; Hedetoft, Morten; Bermejo-Martin, Jesús F; Akatsuka, Masayuki; Heinz, Corina C; Venet, Fabienne; Monneret, Guillaume; Meessen, Jennifer; Cheng, Tzu Hsuan; Zhang, Ming; Caironi, Pietro; Giamarellos-Bourboulis, Evangelos J; de la Torre Terrón, Mari C; Ebelt, Henning; Rademaker, Emma; Bodelsson, Mikael; Tverring, Jonas; Mi, Yuxin; Knight, Julian C; Lindsey, Merry L; Langley, Raymond J; Kingsmore, Stephen F; Brealey, Dave; Singer, Mervyn; Arulkumaran, Nishkantha

Exploration of treatment burden through examination of workload and patient capacity during transition onto kidney replacement therapy: a systematic review of qualitative research

通过考察肾脏替代治疗过渡期间的工作量和患者承受能力来探讨治疗负担:一项定性研究的系统评价

Jones, Catrin; Cairns, Ross; Walker, Heather; Welsh, Silje; Edgar, Benjamin; Stevenson, Karen; Jani, Bhautesh D; Mark, Patrick B; Kingsmore, David; Gallacher, Katie I

MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

MPSE可在新生儿重症监护室入院48小时内识别需要进行全基因组测序的新生儿。

Peterson, Bennet; Juarez, Edwin F; Moore, Barry; Hernandez, Edgar Javier; Frise, Erwin; Li, Jianrong; Lussier, Yves; Tristani-Firouzi, Martin; Reese, Martin G; Malone Jenkins, Sabrina; Kingsmore, Stephen F; Bainbridge, Matthew N; Yandell, Mark

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Treatment burden and health literacy among patients referred to a vascular access clinic: a cross-sectional study

转诊至血管通路诊所的患者的治疗负担和健康素养:一项横断面研究

Edgar, Ben; Jones, Catrin; Martin, Laura; Stevenson, Karen; Thomson, Peter C; Mark, Patrick B; Kingsmore, David B

Healthcare workload associated with transition onto kidney replacement therapy: a retrospective cohort study

与肾脏替代疗法过渡相关的医疗工作量:一项回顾性队列研究

Jones, Catrin H; Edgar, Benjamin; Thomson, Peter C; Gallacher, Katie I; Knight, Stephen; Kingsmore, David; Mark, Patrick B; Stevenson, Karen; Jani, Bhautesh