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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Management of walled-off pancreatic necrosis (WON) beyond the conventional step-up strategy: a retrospective cohort study

除常规阶梯式治疗策略外,包裹性胰腺坏死(WON)的治疗:一项回顾性队列研究

Ebrahim, Mohamed; Lauritsen, Morten Laksáfoss; Schefte, David Fenger; Olsen, Gitte Aabye; Novovic, Srdan; Karstensen, John Gásdal

Hydrocortisone replacement therapy in patients with glucocorticoid withdrawal syndrome after cessation of glucocorticoid treatment: REPLACE, a multicentre, randomised, double-blinded, placebo-controlled, 16-week study protocol

糖皮质激素治疗停止后出现糖皮质激素戒断综合征患者的氢化可的松替代疗法:REPLACE,一项多中心、随机、双盲、安慰剂对照、为期16周的研究方案

Dreyer, Anja Fenger; Hansen, Simon Bøggild; Borresen, Stina Willemoes; Al-Jorani, Hajir; Bislev, Lise Sofie; Boesen, Victor Brun; Christensen, Louise Lehmann; Glintborg, Dorte; Jensen, Richard Christian; Jørgensen, Nanna Thurmann; Klose, Marianne Christina; Lund, Marie Louise; Frederiksen, Jelena Skaaning S; Tei, Randi; Feldt-Rasmussen, Ulla; Jorgensen, Jens Otto Lunde; Andersen, Marianne Skovsager

Treatment-Limiting Decisions in Neurointensive Care: Withholding or Withdrawal of Life-Sustaining Measures

神经重症监护中的治疗限制性决策:停止或撤除生命维持措施

Ankerstjerne, Isabella Carvalho; Fenger, Anne-Sophie Worm; Olsen, Markus Harboe; Bergdal, Ove; Kondziella, Daniel; Jensen, Helene Ravnholt; Greisen, Gorm; Mathiesen, Tiit Illimar; Møller, Kirsten

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction

SLC1A2相关神经发育障碍的严重程度与转运蛋白功能障碍相关。

Kovermann, Peter; Bayat, Allan; Fenger, Christina D; Leeuwen, Lisette; Borovikov, Artem; Sharkov, Artem; Levrat, Virginie; Lesca, Gaetan; Perrin, Laurence; Levy, Jonathan; Fahlke, Christoph; Møller, Rikke S; Jensen, Anders A

Seizure detection using wearable electrocardiogram connected to a smartphone: a phase 3 clinical validation study

利用连接至智能手机的可穿戴心电图进行癫痫发作检测:一项3期临床验证研究

Jeppesen, Jesper; Christensen, Jakob; Ahrenfeldt Petersen, Oliver; Fenger, Sarah; Armand Larsen, Sidsel; Wüstenhagen, Stephan; Wagner, Stefan Rahr; Johansen, Peter; Beniczky, Sándor

Changes in Adrenal Function and Insufficiency Symptoms After Cessation of Prednisolone

停用泼尼松龙后肾上腺功能和功能不全症状的变化

Hansen, Simon Bøggild; Dreyer, Anja Fenger; Jørgensen, Nanna Thurmann; Al-Jorani, Hajir; Bislev, Lise Sofie; Boesen, Victor Brun; Borresen, Stina Willemoes; Christensen, Louise Lehmann; Glintborg, Dorte; Hauge, Ellen Margrethe; Hetland, Merete Lund; Jensen, Richard Christian; Just, Søren Andreas; Keller, Kresten Krarup; Klose, Marianne; Laugesen, Kristina; Locht, Henning; Lund, Marie Louise; Stankovic, Jelena; Stewart, Paul M; Tei, Randi Maria Hanghøj; Voss, Anne; Feldt-Rasmussen, Ulla; Jørgensen, Jens Otto L; Andersen, Marianne Skovsager

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Chronic care provision in general practices and association with patient level outcomes: a nationwide cohort study

全科诊所慢性病护理服务及其与患者结局的关系:一项全国性队列研究

Prior, Anders; Vestergaard, Claus Høstrup; Utoft, Nynne Bech; Vedsted, Peter; Smith, Susan M; Vestergaard, Mogens; Fenger-Grøn, Morten