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

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

P-1950. Updated Epidemiology of Candidemia in the United States, 2015-2024: Using A Large Nation-Wide Electronic Health Record Database

P-1950. 2015-2024年美国念珠菌血症流行病学更新:利用大型全国性电子健康记录数据库

Busatto, Caroline; Bierhals, Dienefer Venske; Vianna, Julia Silveira; Silva, Pedro Eduardo Almeida da; Possuelo, Lia Gonçalves; Ramis, Ivy Bastos; Pérez-Ardila, María A; Patel, Khush; Bekhet, Laila; Arias, Cesar A; Adelman, Max W; Nigo, Masayuki

Venous Thromboembolism in Brain-Dead Organ Donors: A Prospective Study of Prevalence, Management, and Impact on Organ Utilization and Recipient Outcomes

脑死亡器官捐献者静脉血栓栓塞症:一项关于患病率、治疗及对器官利用和受者预后影响的前瞻性研究

Shepherd, Hailey M; Rossetti, Nikki E; Bai, Yun Zhu; Chang, Su-Hsin; Yan, Yan; De Filippis, Alejandro; Delhi, Anjana; Pilar, Meagan R; Baumann, Ana A; Damiano, Marci S; Bierhals, Andrew J; Hachem, Ramsey R; Witt, Chad A; Guillamet, Rodrigo V; Byers, Derek E; Kreisel, Daniel; Nava, Ruben G; Kozower, Benjamin D; Meyers, Bryan F; Patterson, G Alexander; Marklin, Gary F; Puri, Varun

Large-Scale Evaluation of Machine Learning Models in Identifying Follow-Up Recommendations in Radiology Reports

大规模评估机器学习模型在识别放射学报告中后续建议方面的应用

Xiao, Pan; Yu, Xiaobing; Ha, Sung Min; Bani, Abdalla; Mintz, Aaron; Wang, Jieqi; Elbanan, Mohamed; Mokkarala, Mahati; Mattay, Govind; Nazeri, Arash; Kannampallil, Thomas; Lai, Albert M; Narra, Vamsi R; Marcus, Daniel S; Bierhals, Andrew J; Sotiras, Aristeidis

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk

一名患有癫痫的男孩出现长时间呼吸暂停,并携带一种新的获得性功能错义CACNA1A变异,提示存在癫痫猝死风险。

Pelizzari, Simone; Campiglio, Marta; El Ghaleb, Yousra; Bierhals, Tatjana; Hempel, Maja; Denecke, Jonas; Flucher, Bernhard E; Johannsen, Jessika

Toxic Evaluations of Calea phyllolepis Extracts Standardized on 6-epi-β-Verbesinol Coumarate and Its In Silico Prediction of the Toxicity

以6-表-β-马鞭草素香豆酸酯为标准品的Calea phyllopesi提取物的毒性评价及其毒性的计算机预测

Vencato, Suele Bierhals; Borsoi, Guilherme; Feistel, Cleverson; Charão, Mariele Feiffer; Joaquim, Angélica Rocha; Picada, Jaqueline Nascimento; Ferraz, Alexandre de Barros Falcão

Exploring the relationship between ultra-processed food consumption and gut microbiota at school age in a Brazilian birth cohort

探讨巴西出生队列中学龄儿童超加工食品摄入量与肠道菌群之间的关系

Alves, Etiene Dias; Carpena, Marina Xavier; Barros, Aluísio J D; Comelli, Elena M; López-Domínguez, Lorena; Bandsma, Robert H J; Santos, Iná da Silva Dos; Matijasevich, Alicia; Vaz, Juliana Dos Santos; Buffarini, Romina; Bierhals, Isabel Oliveira; Borges, Maria Carolina; Tovo-Rodrigues, Luciana

Older Adults' Perceptions of Health, Quality of Life, and Access to Health Promotion Initiatives for Active Aging: A Qualitative Approach

老年人对健康、生活质量和积极老龄化健康促进举措的感知:一项定性研究

Ribeiro, José Antonio Bicca; Vasconcelos, Breno Berny; Fernandes, Kamila Bierhals; Crochemore-Silva, Inácio; Alberton, Cristine Lima