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

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异会导致一种复杂的神经发育障碍

Planas-Serra, Laura; Rodríguez-Ruiz, Mar; Anderson, Eric Nathaniel; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Schlüter, Agatha; Verdura, Edgard; Gereñu, Gorka; Jiménez-Zúñiga, Andrés; Iñañez, Alejandro; Casas, Josefina; Bech, Joan Josep; De La Torre, Carolina; Martínez, Juan José; Ruiz, Montserrat; Fourcade, Stéphane; Iascone, Maria; Tenconi, Romano; Meier, Kolja; Diegmann, Susann; Lee, Reagan H C; Beland, Bakht; Mir, Asif; Darvish, Hossein; Chung, Wendy; Karimiani, Ehsan Ghayoor; Leal, Suzanne M; Schrauwen, Isabelle; Öhman, Susanna; Järvelä, Irma; Granvik, Johanna; Reinson, Karit; Kurvinen, Elvira; Õunap, Katrin; Schwan, Annemarie; Platzer, Konrad; Kalayci, Tuğba; Sharifi, Shahrashoub; Korenke, G Christoph; Houlden, Henry; Maroofian, Reza; López de Munaín, Adolfo; Casasnovas, Carlos; Pandey, Udai Bhan; Pujol, Aurora

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

ELOVL1双等位基因变异与髓鞘形成不足性脑白质营养不良、运动障碍和鱼鳞病相关。

Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; Thiele, Holger; Nürnberg, Peter; Gräler, Markus H; Houlden, Henry; Huppke, Peter

Environmental Burden of Disease due to Emissions of Hard Coal- and Lignite-Fired Power Plants in Germany

德国燃煤和褐煤发电厂排放物造成的疾病环境负担

Liebig-Gonglach, Michaela; Neunhäuserer, Lina; Kuenen, Jeroen; Hoffmann, Barbara; Soppa, Vanessa; Diegmann, Volker; Hornberg, Claudia

Humoral immune response to COVID-19 mRNA vaccination in relation to selenium status

硒水平与COVID-19 mRNA疫苗的体液免疫反应的关系

Demircan, Kamil; Chillon, Thilo Samson; Sun, Qian; Heller, Raban Arved; Klingenberg, Georg Jochen; Hirschbil-Bremer, Ines Maria; Seemann, Petra; Diegmann, Joachim; Bachmann, Manuel; Moghaddam, Arash; Schomburg, Lutz

Serum Free Zinc Is Associated With Vaccination Response to SARS-CoV-2

血清游离锌与SARS-CoV-2疫苗接种反应相关

Chillon, Thilo Samson; Maares, Maria; Demircan, Kamil; Hackler, Julian; Sun, Qian; Heller, Raban A; Diegmann, Joachim; Bachmann, Manuel; Moghaddam, Arash; Haase, Hajo; Schomburg, Lutz

Free Zinc as a Predictive Marker for COVID-19 Mortality Risk

游离锌作为新冠肺炎死亡风险的预测指标

Maares, Maria; Hackler, Julian; Haupt, Alessia; Heller, Raban Arved; Bachmann, Manuel; Diegmann, Joachim; Moghaddam, Arash; Schomburg, Lutz; Haase, Hajo

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

TTC5综合征:一种严重且可识别疾病的临床和分子谱

Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco

Pre- and intraoperative cerebral near-infrared spectroscopy and postoperative delirium: Results of a prospective cross-sectional trial

术前和术中脑近红外光谱与术后谵妄:一项前瞻性横断面试验的结果

Fischer-Kumbruch, Moritz; Jung, Carolin; Hinken, Lukas; Trübenbach, Dominik; Fielbrand, Rieke; Schenk, Isabel; Diegmann, Oliver; Krauß, Terence; Scheinichen, Dirk; Schultz, Barbara

Prediction of survival odds in COVID-19 by zinc, age and selenoprotein P as composite biomarker

利用锌、年龄和硒蛋白P作为复合生物标志物预测COVID-19患者的生存几率

Heller, Raban Arved; Sun, Qian; Hackler, Julian; Seelig, Julian; Seibert, Linda; Cherkezov, Asan; Minich, Waldemar B; Seemann, Petra; Diegmann, Joachim; Pilz, Maximilian; Bachmann, Manuel; Ranjbar, Alireza; Moghaddam, Arash; Schomburg, Lutz

Relation of Serum Copper Status to Survival in COVID-19

血清铜水平与新冠肺炎患者生存率的关系

Hackler, Julian; Heller, Raban Arved; Sun, Qian; Schwarzer, Marco; Diegmann, Joachim; Bachmann, Manuel; Moghaddam, Arash; Schomburg, Lutz