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

Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function

人类腺苷脱氨酶2型缺乏症可增强NK细胞活化,但会损害其成熟和功能。

Beliën, Jarne; De Visscher, Amber; Pillay, Bethany; Wouters, Marjon; Kienapfel, Verena; Bernaerts, Eline; Mitera, Tania; Berghmans, Nele; Dubois, Bénédicte; Moens, Leen; Matthys, Patrick; Meyts, Isabelle

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers

更正:显性负性ADA2突变会导致杂合子携带者出现ADA2缺乏症。

Wouters, Marjon; Ehlers, Lisa; Van Eynde, Wout; Kars, Meltem Ece; Delafontaine, Selket; Kienapfel, Verena; Dzhus, Mariia; Schrijvers, Rik; De Haes, Petra; Struyf, Sofie; Bucciol, Giorgia; Itan, Yuval; Bolze, Alexandre; Voet, Arnout; Hombrouck, Anneleen; Moens, Leen; Ogunjimi, Benson; Meyts, Isabelle

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.

ADA2 缺陷细胞表现出细胞死亡水平升高和代谢紊乱。

Ehlers Lisa, Wouters Marjon, Pillay Bethany, Delafontaine Selket, Bucciol Giorgia, Baggio Marco, Dzhus Mariia, Hombrouck Anneleen, Damerau Alexandra, De Somer Lien, Schrijvers Rik, Vanderschueren Steven, Jacquemyn Maarten, Kallinich Tilmann, Daelemans Dirk, Ghesquière Bart, Agostinis Patrizia, Moens Leen, Meyts Isabelle

Activating KRAS mutations mark premalignant cystic structures in congenital pulmonary airway malformations.

KRAS 激活突变是先天性肺气道畸形中癌前囊性结构的标志。

van Horik Cathy, Benthem Floor, Buscop-van Kempen Marjon, Boerema-de Munck Anne, van IJcken Wilfred F J, Wijnen Rene M H, Schnater Marco, Rottier Robbert J

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

Dual Pathways From Self-Compassion and Self-Criticism to Academic Achievement: The Roles of Engagement and Exhaustion

从自我关怀和自我批评到学业成就的双重路径:投入和疲惫的作用

Consiglio, Piermarco; Fokkens-Bruinsma, Marjon; Opdenakker, Marie-Christine; Jansen, Ellen P W A; Fleer, Joke

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

Health care resources and costs associated with delivering gene therapy for hemophilia in clinical practice

在临床实践中,为血友病患者提供基因治疗所涉及的医疗资源和成本

Prameyllawati, Diaz M; Mussert, Caroline M A; Oude Voshaar, Martijn A H; Lingsma, Hester F; Cnossen, Marjon H; Coppens, Michiel; Meijer, Karina; van der Valk, Paul R; Leebeek, Frank W G; Ten Ham, Renske M T

A Systematic Review of Modelling Approaches in Economic Evaluations of Treatments for Inherited Bleeding Disorders

遗传性出血性疾病治疗经济评价中建模方法的系统性综述

Prameyllawati, Diaz M; Lingsma, Hester F; Cnossen, Marjon H; Ten Ham, Renske M T