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

A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.

在一个患有 ADHD 的家庭中发现了一种低频有害的 SORCS2 变异,这种变异会损害受体稳定性并抑制其活性。

Kaas Mathias, Dinesen Sarah Broholt, Ahlgreen Ole, Madsen Peder, Mølgaard Simon, Dalby Anders, Gustafsen Camilla, Olsen Ditte, Duan Jinjie, Vilstrup Joachim, Lende Jonas, Nordestgaard Sanne, Zayats Tetyana, Knappskog Per Morten, Johansson Stefan, Neckelmann Gesche, Franke Barbara, Thirup Søren, Børglum Anders, Reif Andreas, Vægter Christian, Demontis Ditte, Haavik Jan, Glerup Simon, Skeldal Sune

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female

女性 C1GALT1C1 相关糖基化马赛克障碍

Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg-Molinaro, Sandra F Cummings, Florian Erger, Bodo B Beck, Laurie H Seaver, Richard D Cummings

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

“I wanted to have a Christian family”: Affinities Between Religiosity and Family Styles Among Catholics and Evangelicals in a Low-Income Neighborhood in Santiago

“我想要一个基督教家庭”:圣地亚哥低收入社区天主教徒和福音派教徒的宗教信仰与家庭模式的相似之处

Singer, L T; Song, L Y; Hill, B P; Jaffe, A C; Neckelmann, Maureen; Araos, Consuelo; Siles, Catalina

Intrapleural fibrinolysis and DNase versus video-assisted thoracic surgery (VATS) for the treatment of pleural empyema (FIVERVATS): protocol for a randomised, controlled trial - surgery as first-line treatment

胸膜内溶栓联合DNase治疗与胸腔镜辅助手术(VATS)治疗脓胸的疗效比较(FIVERVATS):一项随机对照试验方案——手术作为一线治疗方案

Christensen, Thomas Decker; Bendixen, Morten; Skaarup, Søren Helbo; Jensen, Jens-Ulrik; Petersen, Rene Horsleben; Christensen, Merete; Licht, Peter; Neckelmann, Kirsten; Bibby, Bo Martin; Møller, Lars B; Bodtger, Uffe; Borg, Morten Hornemann; Saghir, Zaigham; Langfeldt, Sten; Harders, Stefan M W; Bedawi, Eihab O; Naidu, Babu; Rahman, Najib; Laursen, Christian B

NOR-SASS (Norwegian Sonothrombolysis in Acute Stroke Study): Randomized Controlled Contrast-Enhanced Sonothrombolysis in an Unselected Acute Ischemic Stroke Population

NOR-SASS(挪威急性卒中超声溶栓研究):一项针对未经筛选的急性缺血性卒中人群的随机对照对比增强超声溶栓研究

Nacu, Aliona; Kvistad, Christopher E; Naess, Halvor; Øygarden, Halvor; Logallo, Nicola; Assmus, Jörg; Waje-Andreassen, Ulrike; Kurz, Kathinka D; Neckelmann, Gesche; Thomassen, Lars

Fat in the lumbar multifidus muscles - predictive value and change following disc prosthesis surgery and multidisciplinary rehabilitation in patients with chronic low back pain and degenerative disc: 2-year follow-up of a randomized trial

腰椎多裂肌脂肪含量——对慢性腰痛和椎间盘退行性病变患者行椎间盘置换术和多学科康复后脂肪含量的预测价值及变化:一项随机试验的2年随访

Storheim, Kjersti; Berg, Linda; Hellum, Christian; Gjertsen, Øivind; Neckelmann, Gesche; Espeland, Ansgar; Keller, Anne

Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

髓内 Erdheim-Chester 病对维莫非尼的显著疗效:病例报告

Tzoulis, Charalampos; Schwarzlmüller, Thomas; Gjerde, Ivar Otto; Søfteland, Eirik; Neckelmann, Gesche; Biermann, Martin; Haroche, Julien; Straume, Oddbjørn; Vintermyr, Olav Karsten

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

通过外显子测序诊断的成人发病型α-甲基酰基辅酶A消旋酶缺乏症的MRI特征分析

Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per Morten; Bindoff, Laurence A

Predictors of outcome after surgery with disc prosthesis and rehabilitation in patients with chronic low back pain and degenerative disc: 2-year follow-up

慢性腰痛和椎间盘退行性病变患者行椎间盘置换术和康复治疗后疗效的预测因素:2年随访

Hellum, Christian; Johnsen, Lars Gunnar; Gjertsen, Øyvind; Berg, Linda; Neckelmann, Gesche; Grundnes, Oliver; Rossvoll, Ivar; Skouen, Jan Sture; Brox, Jens Ivar; Storheim, Kjersti