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

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

剪接因子SF1的杂合致病变异会导致多种神经发育障碍。

Bou-Rouphael, Johnny; Cospain, Auriane; Courtin, Thomas; Keren, Boris; Marie, Corentine; Lesieur-Sebellin, Marion; Heron, Delphine; de Sainte Agathe, Jean-Madeleine; Heide, Solveig; Lejeune, Elodie; Quelin, Chloe; Lecoquierre, François; Nizon, Mathilde; Isidor, Bertrand; Besnard, Thomas; Cogne, Benjamin; Latypova, Xenia; Levy, Jonathan; Joset, Pascal; Steindl, Katharina; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Thomas, Mary Ann; Abubakar, Amina; Lynch, Sally Ann; Müller, Amelie J; Haack, Tobias B; Zenker, Martin; Parker, Michael; Clossick, Emma; Spiller, Michael; Crookes, Renarta; Holder-Espinasse, Muriel; Bayat, Allan; Møller, Rikke S; Mieszczanek, Tomasz Stanislaw; de la Grange, Pierre; Buratti, Julien; Marijon, Pierre; Ataf, Sabir; Gavin, Ryan; Parras, Carlos; Hassan, Bassem A; Mignot, Cyril; El Khattabi, Laïla

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Association of Pneumococcal Conjugate Vaccine Use With Hospitalized Pneumonia in Medicare Beneficiaries 65 Years or Older With and Without Medical Conditions, 2014 to 2017

2014年至2017年,肺炎球菌结合疫苗的使用与65岁及以上患有或未患有其他疾病的Medicare受益人住院肺炎之间的关联

Kobayashi, Miwako; Spiller, Michael W; Wu, Xiyuan; Wang, Rongrong; Chillarige, Yoganand; Wernecke, Michael; MaCurdy, Thomas E; Kelman, Jeffery A; Deng, Li; Shang, Nong; Whitney, Cynthia G; Pilishvili, Tamara; Lessa, Fernanda C

Expanding the phenotype of TAB2 variants and literature review

扩展TAB2变异体的表型及文献综述

Woods, Emily; Marson, Imogen; Coci, Emanuele; Spiller, Michael; Kumar, Ajith; Brady, Angela; Homfray, Tessa; Fisher, Richard; Turnpenny, Peter; Rankin, Julia; Kanani, Farah; Platzer, Konrad; Ververi, Athina; Emmanouilidou, Eleftheria; Bourboun, Nourxan; Giannakoulas, George; Balasubramanian, Meena

Invasive Group A Streptococcal Infections Among People Who Inject Drugs and People Experiencing Homelessness in the United States, 2010-2017

2010-2017年美国注射吸毒者和无家可归者中A组链球菌侵袭性感染情况

Valenciano, Sandra J; Onukwube, Jennifer; Spiller, Michael W; Thomas, Ann; Como-Sabetti, Kathryn; Schaffner, William; Farley, Monica; Petit, Susan; Watt, James P; Spina, Nancy; Harrison, Lee H; Alden, Nisha B; Torres, Salina; Arvay, Melissa L; Beall, Bernard; Van Beneden, Chris A

Intrapartum Antibiotic Exposure and Body Mass Index in Children

儿童分娩期抗生素暴露与体重指数

Koebnick, Corinna; Sidell, Margo A; Getahun, Darios; Tartof, Sara Y; Rozema, Emily; Taylor, Brianna; Xiang, Anny H; Spiller, Michael W; Sharma, Andrea J; Mukhopadhyay, Sagori; Puopolo, Karen M; Schrag, Stephanie J

Intrapartum group B Streptococcal prophylaxis and childhood weight gain

产时B族链球菌预防与儿童期体重增加

Mukhopadhyay, Sagori; Bryan, Matthew; Dhudasia, Miren B; Quarshie, William; Gerber, Jeffrey S; Grundmeier, Robert W; Koebnick, Corinna; Sidell, Margo A; Getahun, Darios; Sharma, Andrea J; Spiller, Michael W; Schrag, Stephanie J; Puopolo, Karen Marie

Chronic Intra-Uterine Ureaplasma parvum Infection Induces Injury of the Enteric Nervous System in Ovine Fetuses

慢性宫内小脲原体感染导致绵羊胎儿肠神经系统损伤

Cathelijne Heymans, Ilse H de Lange, Matthias C Hütten, Kaatje Lenaerts, Nadine J E de Ruijter, Lilian C G A Kessels, Glenn Rademakers, Veerle Melotte, Werend Boesmans, Masatoshi Saito, Haruo Usuda, Sarah J Stock, Owen B Spiller, Michael L. Beeton, Matthew S Payne, Boris W Kramer, John P Newnham, Al

Prophylactic Intra-Uterine β-Cyclodextrin Administration during Intra-Uterine Ureaplasma parvum Infection Partly Prevents Liver Inflammation without Interfering with the Enterohepatic Circulation of the Fetal Sheep

宫内小脲原体感染期间预防性宫内注射 β-环糊精可部分预防肝脏炎症,且不会干扰羊胎的肠肝循环

Cathelijne Heymans, Lara R Heij, Kaatje Lenaerts, Marcel den Dulk, Mhamed Hadfoune, Chantal van Heugten, Owen B Spiller, Michael L Beeton, Sarah J Stock, Alan H Jobe, Matthew S Payne, Matthew W Kemp, Boris W Kramer, Jogchum Plat, Wim G van Gemert, Tim G A M Wolfs4

Impact of 13-Valent Pneumococcal Conjugate Vaccine on Meningitis and Pneumonia Hospitalizations in Children aged <5 Years in Senegal, 2010-2016

2010-2016年塞内加尔5岁以下儿童脑膜炎和肺炎住院率受13价肺炎球菌结合疫苗的影响

Faye, Papa M; Sonko, Mouhamadou A; Diop, Amadou; Thiongane, Aliou; Ba, Idrissa D; Spiller, Michael; Ndiaye, Ousmane; Dieye, Baidy; Mwenda, Jason M; Sow, Ahmed I; Diop, Boly; Diallo, Aliou; Farrar, Jennifer L