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

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

非蛋白质编码的次要剪接体组分 RNU6ATAC 和 RNU4ATAC 的双等位基因变异会导致综合征型单基因自身免疫性糖尿病

Johnson, Matthew B; Russ-Silsby, James; Blair, Paul A; Govier, Molly; Bonfield, Georgia; Domingo-Vila, Clara; Wakeling, Matthew N; Oram, Richard A; Flanagan, Sarah E; Tree, Timothy I M; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes

IL2RA基因的双等位致病变异导致新生儿期发病的单基因自身免疫性糖尿病

Bonfield, Georgia; Russ-Silsby, James; Ramchand, Suraj; Luckett, Amber M; Wakeling, Matthew N; Kulkarni, Abhishek; Nagesh, V Sri; Deeb, Asma; Ravikumar, K G; Nguyen, Phuong T K; Hattersley, Andrew T; Oram, Richard A; Flanagan, Sarah E; De Franco, Elisa; Johnson, Matthew B

Quality of Cancer-Related Clinical Coding in Primary Care in North Central London: Mixed Methods Quality Improvement Project

北伦敦中部初级保健中癌症相关临床编码质量:混合方法质量改进项目

Bhuiya, Afsana; Roberts, Graham; Tucker, Katie; Bonfield, Stefanie; Black, Georgia

Divergent Mechanisms of Cranial Suture Ossification in Normal Development and Pathologic Fusion

正常发育和病理性融合中颅缝骨化的差异机制

Reddy, Anvith; Qaddo, Sarah; Li, Penny; Gautama, Barite; Abbott, Erin; Dean, Yomna; Means, Anna; Golinko, Michael; Bonfield, Christopher; Thayer, Wesley; Perdikis, Galen; Pontell, Matthew

Understanding barriers to pediatric hydrocephalus management: an international survey

了解儿童脑积水治疗的障碍:一项国际调查

Ojiako, S Edwin; Muller, Rya; Wendt, Linder H; Eyck, Patrick P Ten; Bhebhe, Arnold; Akbari, S Hassan A; Rodriguez, Luis; Jallo, George I; Kunda, Humphrey; Nourski, Kirill V; Sichizya, Kachinga; Bonfield, Christopher M; Reynolds, Rebecca A

Wormian bones: expanded differential diagnosis and implications for abnormal head shape in infancy

颅缝骨:婴儿期异常头型鉴别诊断的扩展及其意义

Alter, Noah E; Rogers, James L; Puc, Marcelina; Hoang, Anthony; Galdyn, Izabela; Bonfield, Christopher M; Pontell, Matthew; Golinko, Michael

Extracellular Particles Derived From Mesenchymal Stromal Cells Reduce Pseudomonas aeruginosa Lung Infection and Inflammation in Mice

间充质干细胞来源的细胞外颗粒可减轻小鼠肺部铜绿假单胞菌感染和炎症

Sarkar, Sharanya; Barnaby, Roxanna; Faber, Zachary; Taub, Lily; Roche, Carolyn; Charpentier, Lily A; Hampton, Thomas H; Vietje, Brad; Taatjes, Douglas J; Cho, Byoung-Kyu; Goo, Young Ah; Wargo, Matthew J; Weiss, Daniel J; Bonfield, Tracey L; Kelley, Thomas J; Stanton, Bruce A

Microbiota-derived inosine programs protective CD8+ T cell responses against influenza in newborns

肠道菌群衍生的肌苷可诱导新生儿产生针对流感的保护性CD8+ T细胞反应

Joseph Stevens,Erica Culberson,Jeremy Kinder,Alicia Ramiriqui,Jerilyn Gray,Madeline Bonfield,Tzu-Yu Shao,Faris Al Gharaibeh,Laura Peterson,Shelby Steinmeyer,Emily M Eshleman,Shikha Negi,William Zacharias,Gloria Pryhuber,Oindrila Paul,Shaon Sengupta,Theresa Alenghat,Sing Sing Way,Hitesh Deshmukh

Microbiota-derived inosine programs protective CD8+ T cell responses against influenza in newborns

肠道菌群衍生的肌苷可诱导新生儿产生针对流感的保护性CD8+ T细胞反应

Joseph Stevens ,Erica Culberson ,Jeremy Kinder ,Alicia Ramiriqui ,Jerilyn Gray ,Madeline Bonfield ,Tzu-Yu Shao ,Faris Al Gharaibeh ,Laura Peterson ,Shelby Steinmeyer ,Emily M Eshleman ,Shikha Negi ,William Zacharias ,Gloria Pryhuber ,Oindrila Paul ,Shaon Sengupta ,Theresa Alenghat ,Sing Sing Way ,Hitesh Deshmukh

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome

TMEM167A隐性变异会导致新生儿糖尿病、小头畸形和癫痫综合征。

Virgilio, Enrico; Tielens, Sylvia; Bonfield, Georgia; Nian, Fang-Shin; Sawatani, Toshiaki; Vinci, Chiara; Govier, Molly; Montaser, Hossam; Lartigue, Romane; Arunagiri, Anoop; Liboz, Alexandrine; Da Silva, Flavia Natividade; Lytrivi, Maria; Papadopoulou, Theodora; Wakeling, Matthew N; Russ-Silsby, James; Bowman, Pamela; Johnson, Matthew B; Laver, Thomas W; Piron, Anthony; Yi, Xiaoyan; Fantuzzi, Federica; Hendrickx, Sirine; Igoillo-Esteve, Mariana; Santacreu, Bruno J; Suntharesan, Jananie; Ghildiyal, Radha; Hegde, Darshan; Shah, Nikhil; Acar, Sezer; Dönmez, Beyhan Özkaya; Özkan, Behzat; Mohsin, Fauzia; Talaat, Iman M; Abbas, Mohamed Tarek; Abbas, Omar Tarek; Alghamdi, Hamed Ali; Kandemir, Nurgun; Flanagan, Sarah E; Scharfmann, Raphael; Arvan, Peter; Raoux, Matthieu; Nguyen, Laurent; Hattersley, Andrew T; Cnop, Miriam; De Franco, Elisa