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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk

病例报告系列:厄瓜多尔混血患者长QT间期综合征的遗传和临床特征及其对猝死风险的影响

Paz-Cruz, Elius; Ruiz-Pozo, Viviana A; Cadena-Ullauri, Santiago; Guevara-Ramírez, Patricia; Tamayo-Trujillo, Rafael; Ibarra-Castillo, Rita; Laso-Bayas, José Luis; Meza-Chico, Leonel; Zambrano, Ana Karina

Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential Implications for Familial Hypercholesterolemia Genetics

厄瓜多尔混血心脏病患者的群体混合和APOB变异图谱:对家族性高胆固醇血症遗传学的潜在影响

Cadena-Ullauri, Santiago; Guevara-Ramírez, Patricia; Ruiz-Pozo, Viviana A; Tamayo-Trujillo, Rafael; Paz-Cruz, Elius; Becerra-Fernández, Manuel; Doménech, Nieves; Laso-Bayas, José Luis; Ibarra-Castillo, Rita; Cabrera-Andrade, Alejandro; Zambrano, Ana Karina

Helicobacter pylori Positivity by 16S rRNA Gene PCR in Fecal Samples From Patients With Gastroduodenal Symptoms: A Retrospective Observational Study

胃十二指肠症状患者粪便样本中幽门螺杆菌16S rRNA基因PCR检测阳性率:一项回顾性观察研究

Jácome-Montero, Dayaneth; Guamán-Angulo, Jhoan; Tigre-León, Angélica; Bayas-Morejón, Favian; Guerrero-Luzuriaga, Sebastián; Herrera-Chávez, Byron

Information and misinformation on assisted human reproduction techniques in Europe: a normative analysis of the information provided on the websites of medically assisted reproduction clinics

欧洲辅助生殖技术相关信息及误导信息:对辅助生殖诊所网站所提供信息的规范性分析

Albert, Marta; Tapia, Rosa; Farfán, Juana; Vicente, Alfonso; Muñoz, Sara; Toribio-López, María; Carrasco, Jose Miguel; De Bayas Sanchez, Anna; Fuller, Michaela; Barrett, Nathaniel; Güell, Francisco

HLA-A∗03:01 as predictive genetic biomarker for glatiramer acetate treatment response in multiple sclerosis: a retrospective cohort analysis

HLA-A∗03:01 作为多发性硬化症格拉替雷治疗反应的预测性遗传生物标志物:一项回顾性队列分析

Zhang, Brian C; Schneider-Hohendorf, Tilman; Elyanow, Rebecca; Pignolet, Beatrice; Falk, Simon; Wünsch, Christian; Deffner, Marie; Yusko, Erik; May, Damon; Mattox, Daniel; Dawin, Eva; Gerdes, Lisa Ann; Bucciarelli, Florence; Revie, Lisa; Antony, Gisela; Jarius, Sven; Seidel, Christiane; Senel, Makbule; Bittner, Stefan; Luessi, Felix; Havla, Joachim; Knop, Matthias; Friese, Manuel A; Rothacher, Susanne; Salmen, Anke; Hayashi, Fumie; Henry, Roland; Caillier, Stacy; Santaniello, Adam; Seipelt, Maria; Heesen, Christoph; Nischwitz, Sandra; Bayas, Antonios; Tumani, Hayrettin; Then Bergh, Florian; Meyer Zu Hörste, Gerd; Kümpfel, Tania; Gross, Catharina C; Wildemann, Brigitte; Kerschensteiner, Martin; Gold, Ralf; Meuth, Sven G; Zipp, Frauke; Cree, Bruce A C; Oksenberg, Jorge; Wilson, Michael R; Hauser, Stephen L; Zamvil, Scott S; Klotz, Luisa; Liblau, Roland; Robins, Harlan; Sabatino, Joseph J Jr; Wiendl, Heinz; Schwab, Nicholas

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis

多发性硬化症的遗传风险变异及其他与鞘内免疫球蛋白G合成相关的基因位点

Pukaj, Albert; Harroud, Adil; Shchetynsky, Klementy; Wirsching, Laura; Peters, Lucy; Andlauer, Till F M; Pääkkönen, Kimmo; Bos, Steffan D; Moylett, Sinéad; Dubois, Bénédicte; Llufriu, Sara; Luessi, Felix; Tackenberg, Björn; Kowarik, Markus C; Then Bergh, Florian; Trebst, Corinna; Tumani, Hayrettin; Wildemann, Brigitte; Bayas, Antonios; Havla, Joachim; Kümpfel, Tania; Knop, Matthias; Genetics Center, Regeneron; Stridh, Pernilla; Hillert, Jan A; Olsson, Tomas; Alfredsson, Lars; Cotsapas, Chris; Flinstad Harbo, Hanne; Zipp, Frauke; Saarela, Janna; Baranzini, Sergio E; Berthele, Achim; Kockum, Ingrid; Hemmer, Bernhard; Gasperi, Christiane

Harvard Electroencephalography Database: A comprehensive clinical electroencephalographic resource from four Boston hospitals

哈佛脑电图数据库:来自波士顿四家医院的综合性临床脑电图资源

Sun, Chenxi; Jing, Jin; Turley, Niels; Alcott, Callison; Kang, Wan-Yee; Cole, Andrew J; Goldenholz, Daniel M; Lam, Alice; Amorim, Edilberto; Chu, Catherine; Cash, Sydney; Junior, Valdery Moura; Gupta, Aditya; Ghanta, Manohar; Nearing, Bruce; Nascimento, Fábio A; Struck, Aaron; Kim, Jennifer; Sartipi, Shadi; Tauton, Alexandra-Maria; Fernandes, Marta; Sun, Haoqi; Bayas, Grace; Gallagher, Kaileigh; Wagenaar, Joost B; Sinha, Nishant; Lee-Messer, Christopher; Silvers, Christine Tsien; Gunapati, Bharath; Rosand, Jonathan; Peters, Jurriaan; Loddenkemper, Tobias; Lee, Jong Woo; Zafar, Sahar; Westover, M Brandon

Worse recovery from acute attacks and faster disability accumulation highlights the unmet need for improved treatment in patients with late-onset neuromyelitis optica spectrum disorders (COPTER-LO study)

急性发作后的恢复情况较差,残疾累积速度更快,这凸显了晚发性视神经脊髓炎谱系疾病患者亟需改善治疗(COPTER-LO 研究)。

Kretschmer, Julian Reza; Tkachenko, Daria; Kümpfel, Tania; Havla, Joachim; Engels, Daniel; Paul, Friedemann; Schindler, Patrick; Bellmann-Strobl, Judith; Berthele, Achim; Giglhuber, Katrin; Zappe, Clarissa; Klotz, Luisa; Revie, Lisa; Dawin, Eva; Senel, Makbule; Tumani, Hayrettin; Bergh, Florian Then; Warnke, Clemens; Kraemer, Markus; Walter, Annette; Bayas, Antonios; Zettl, Uwe K; Lauenstein, Ann-Sophie; Yalachkov, Yavor; Etgen, Thorleif; Kaste, Matthias; Luessi, Felix; Gingele, Stefan; Passoke, Sarah; Weber, Martin S; Sieb, Jörn Peter; Haarmann, Axel; Oschmann, Patrick; Rothhammer, Veit; Geis, Christian; Kowarik, Markus C; Kern, Peter; Grothe, Matthias; Stephanik, Heike; Angstwurm, Klemens; Hoffmann, Frank; Wallwitz, Ulrike; Wildemann, Brigitte; Jarius, Sven; Stellmann, Jan-Patrick; Pakeerathan, Thivya; Schwake, Carolin; Ayzenberg, Ilya; Kleiter, Ingo; Fischer, Katinka; Aktas, Orhan; Ringelstein, Marius; Häußler, Vivien; Trebst, Corinna; Hümmert, Martin W

Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women

评估液体活检检测循环肿瘤DNA(ctDNA)作为厄瓜多尔女性甲状腺癌辅助诊断工具的价值

Cadena-Ullauri, Santiago; Ruiz-Pozo, Viviana A; Paz-Cruz, Elius; Tamayo-Trujillo, Rafael; Guevara-Ramírez, Patricia; Jaramillo-Calvas, Oscar; García, Cristhian; García, Mikaela; Pérez, Ana; Ochoa-Castro, Maritza; Zaruma-Torres, Fausto; Bayas-Morejón, Favian; Guamán-Herrera, Lenín; Zambrano, Ana Karina