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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Impact of meningoencephalitis and sepsis on delirium and subsequent neurological impairment in pediatric patients: a prospective proof-of-concept biomarker and EEG study

脑膜脑炎和脓毒症对儿童患者谵妄及后续神经功能障碍的影响:一项前瞻性概念验证生物标志物和脑电图研究

Klawitter, Felix; Hackenberg, Johanna; Danckert, Lena; Bertsche, Astrid; Petzold, Axel; Smith, Heidi A B; Ely, Eugene Wesley; Spang, Christian; Bajorat, Rika; Fischer, Dagmar-Christiane; Klinkmann, Gerd; Körmann-Günther, Anne; Fleischmann, Robert; Heslegrave, Amanda; Zetterberg, Henrik; Peters-Sengers, Hessel; Ehler, Johannes

No substantial neurocognitive impact of COVID-19 across ages and disease severity: a multicenter biomarker study of SARS-CoV-2 positive and negative adult and pediatric patients with acute respiratory tract infections.

COVID-19 对不同年龄段和疾病严重程度的患者没有实质性的神经认知影响:一项针对 SARS-CoV-2 阳性和阴性成人及儿童急性呼吸道感染患者的多中心生物标志物研究

Ehler Johannes, Klawitter Felix, von Möllendorff Friedrich, Zacharias Maike, Fischer Dagmar-Christiane, Danckert Lena, Bajorat Rika, Hackenberg Johanna, Bertsche Astrid, Loebermann Micha, Geerdes-Fenge Hilte, Fleischmann Robert, Klinkmann Gerd, Schramm Patrick, Schober Sarah, Petzold Axel, Perneczky Robert, Saller Thomas

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management

儿童先天性代谢缺陷患者对长期治疗和代谢紧急情况管理的看法

Harings, Tanjana; Bertsche, Thilo; Thiele, Alena Gerlinde; Kiess, Wieland; Bertsche, Astrid; Beblo, Skadi; Neininger, Martina Patrizia

How important is the physician in an era of digitalization and alternative information sources? A survey among parents of children with developmental disorders

在数字化和信息来源多元化的时代,医生究竟有多重要?一项针对发育障碍儿童家长的调查

Kreis, Charlyn; Neininger, Martina P; Vela Martin, Teresa; Krause, Gudrun E; Bertsche, Thilo; Bertsche, Astrid; Jeschke, Sarah

Medication-related perceptions of children and adolescents with severe asthma and moderate-to-severe atopic dermatitis: a non-interventional exploratory study

重度哮喘和中重度特应性皮炎患儿及青少年对药物相关认知:一项非干预性探索性研究

Herzig, Markus; Vom Hove, Maike; Bertsche, Astrid; Lipek, Tobias; Kiess, Wieland; Bertsche, Thilo; Prenzel, Freerk; Neininger, Martina Patrizia

A Regional Tele-Paediatric Network (RTP-Net) in the northeast of Germany-results of an implementation study

德国东北部区域远程儿科网络(RTP-Net)——一项实施研究的结果

Tischler, Luisa; Pfeuffer, Nils; Jordan, Yvonne; Heimbuch, Sarah; Krause, Heiko; Beyer, Angelika; Zach, Maria; Bertsche, Astrid; Gesser, Udo; Krohn, Markus; Fleßa, Steffen; Hoffmann, Wolfgang; van den Berg, Neeltje

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management

儿童先天性代谢缺陷的影响:父母对限制、歧视、计划生育和应急管理的看法

Harings, Tanjana; Neininger, Martina P; Eisenhofer, Simone; Thiele, Alena G; Kiess, Wieland; Bertsche, Astrid; Bertsche, Thilo; Beblo, Skadi

Drug-Drug Interactions Involving High-Alert Medications that Lead to Interaction-Associated Symptoms in Pediatric Intensive Care Patients: A Retrospective Study

儿科重症监护患者中高危药物相互作用导致相互作用相关症状的回顾性研究

Kiesel, Lisa Marie; Bertsche, Astrid; Kiess, Wieland; Siekmeyer, Manuela; Bertsche, Thilo; Neininger, Martina Patrizia

A multicenter, matched case-control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany

一项多中心、配对病例对照分析比较了德国结节性硬化症相关癫痫、全身性特发性癫痫和局灶性癫痫患者的疾病负担

Lappe, Lisa; Hertzberg, Christoph; Knake, Susanne; Knuf, Markus; von Podewils, Felix; Willems, Laurent M; Kovac, Stjepana; Zöllner, Johann Philipp; Sauter, Matthias; Kurlemann, Gerhard; Mayer, Thomas; Bertsche, Astrid; Marquard, Klaus; Meyer, Sascha; Schäfer, Hannah; Thiels, Charlotte; Zukunft, Bianca; Schubert-Bast, Susanne; Reese, Jens-Peter; Rosenow, Felix; Strzelczyk, Adam