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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

A new era for ICU-acquired weakness research-from mechanisms to meaningful recovery

重症监护室获得性肌无力研究的新时代——从机制到有意义的康复

Piva, Simone; Langouche, Lies; Mohammed, Aabdi

Abnormal carnitine concentrations in critical illness associated with compromised outcome

危重患者体内异常的肉碱浓度与不良预后相关。

Lauwers, Caroline; Langouche, Lies; Güiza Grandas, Fabian; Pardo, Emmanuel; Mebis, Liese; Vander Perre, Sarah; Wouters, Pieter; Vermeersch, Pieter; Van den Berghe, Greet; Gunst, Jan; Casaer, Michael P

Underuse of statins in MASLD despite population-based associations with lower liver stiffness

尽管人群研究表明他汀类药物与较低的肝脏硬度相关,但在MASLD患者中,他汀类药物的使用率仍然很低。

Pustjens, Jesse; van Kleef, Laurens A; Pavlović, Jelena; Lahousse, Lies; Holleboom, Adriaan G; Janssen, Harry L A; Ayada, Ibrahim; Kavousi, Maryam; Chaker, Layal; Roeters van Lennep, Jeanine E; De Knegt, Robert J; Hansen, Bettina E; Stricker, Bruno H; Leening, Maarten J G; Brouwer, Willem Pieter

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

Human Myelin Spheres for in Vitro Oligodendrocyte Maturation, Myelination and Neurological Disease Modeling.

用于体外少突胶质细胞成熟、髓鞘形成和神经系统疾病建模的人类髓鞘球。

Ahuja Karan, Ramezankhani Roya, Wang Xinyu, Burg Thibaut, Amos Giulia, Neyrinck Katrien, Silva Alessio, Arekatla Geethika, Cassidy Eleanor Eva, Nami Fatemeharefeh, Terryn Joke, Wierda Keimpe, Vints Katlijn, Vandamme Niels, Poovathingal Suresh, Lambrichts Ivo, Swinnen Johannes V, Van Den Bosch Ludo, De Groef Lies, Moons Lieve, Verfaillie Catherine, Neyts Johan, Jochmans Dirk, Chai Yoke Chin

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

The impact of lipid-rich nutrition on ketogenesis and muscle weakness in sepsis

高脂营养对脓毒症酮症和肌肉无力的影响

Lauwers, Caroline; Gunst, Jan; El Dawy, Soraya; Derde, Sarah; Pauwels, Lies; Derese, Inge; Vander Perre, Sarah; Van den Berghe, Greet; Casaer, Michael P; Langouche, Lies

Patient-specific alterations in blood plasma cfRNA profiles enable accurate classification of cancer patients and controls

患者血浆cfRNA谱的特异性改变能够对癌症患者和健康对照组进行准确分类。

Morlion, Annelien; Decruyenaere, Philippe; Schoofs, Kathleen; Anckaert, Jasper; Johns Ramirez, Nickolas; Nuytens, Justine; Vanden Eynde, Eveline; Verniers, Kimberly; Everaert, Celine; Brusselle, Guy; Callens, Steven; Haerynck, Filomeen; Hemelsoet, Dimitri; Hoste, Eric; Lambert, Jo; Lumen, Nicolaas; Offner, Fritz; Paemeleire, Koen; Smith, Vanessa; Van den Eynde, Lies; Van Dorpe, Jo; Vanhaecke, Amber; Van Vlierberghe, Hans; Mariman, An; Thas, Olivier; Vandesompele, Jo; Mestdagh, Pieter

Altered muscle transcriptome as molecular basis of long-term muscle weakness in survivors from critical illness

重症患者幸存者长期肌肉无力的分子基础:肌肉转录组改变

Uzun Ayar, Ceren; Güiza, Fabian; Derese, Inge; Pauwels, Lies; Vander Perre, Sarah; Pintelon, Isabel; Casaer, Michaël; Van Aerde, Nathalie; Hermans, Greet; Derde, Sarah; Kreiss, Lucas; Van den Berghe, Greet; Vanhorebeek, Ilse