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

Mtb HLA-E-tetramer-sorted CD8+ T cells have a diverse TCR repertoire

结核分枝杆菌HLA-E四聚体分选的CD8+ T细胞具有多样化的TCR库

Linda Voogd ,Anne M H F Drittij ,Calinda K E Dingenouts ,Kees L M C Franken ,Vincent van Unen ,Krista E van Meijgaarden ,Paula Ruibal ,Renate S Hagedoorn ,Judith A Leitner ,Peter Steinberger ,Mirjam H M Heemskerk ,Mark M Davis ,Thomas J Scriba ,Tom H M Ottenhoff ,Simone A Joosten

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

与单等位基因 COL4A3 和 COL4A4 变异相关的肾脏疾病:17 个家族的病例系列

Groen In 't Woud, Sander; Rood, Ilse M; Steenbergen, Eric; Willemsen, Brigith; Dijkman, Henry B; van Geel, Michel; Schoots, Jeroen; Wetzels, Jack F M; Lugtenberg, Dorien; Deegens, Jeroen K J; Bongers, Ernie M H F

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors

FLCN和TP53基因的联合种系致病变异与早发性肾细胞癌和脑肿瘤相关。

van de Beek, Irma; Glykofridis, Iris E; Wagner, Anja; den Toom, Dorine T; Bongers, Ernie M H F; van Leenders, Geert J L H; Johannesma, Paul C; Meijers-Heijboer, Hanne E J; Wolthuis, Rob M F; van Steensel, Maurice A M; Dubbink, Hendrikus J; Houweling, Arjan C

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

106例携带主要自闭症基因CHD8变异的患者的表型谱及基因型-表型相关性研究

Dingemans, Alexander J M; Truijen, Kim M G; van de Ven, Sam; Bernier, Raphael; Bongers, Ernie M H F; Bouman, Arjan; de Graaff-Herder, Laura; Eichler, Evan E; Gerkes, Erica H; De Geus, Christa M; van Hagen, Johanna M; Jansen, Philip R; Kerkhof, Jennifer; Kievit, Anneke J A; Kleefstra, Tjitske; Maas, Saskia M; de Man, Stella A; McConkey, Haley; Patterson, Wesley G; Dobson, Amy T; Prijoles, Eloise J; Sadikovic, Bekim; Relator, Raissa; Stevenson, Roger E; Stumpel, Connie T R M; Heijligers, Malou; Stuurman, Kyra E; Löhner, Katharina; Zeidler, Shimriet; Lee, Jennifer A; Lindy, Amanda; Zou, Fanggeng; Tedder, Matthew L; Vissers, Lisenka E L M; de Vries, Bert B A

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis

相同的IFT140变异导致不同的骨骼纤毛病表型——准确诊断的挑战

Walczak-Sztulpa, Joanna; Wawrocka, Anna; Doornbos, Cenna; van Beek, Ronald; Sowińska-Seidler, Anna; Jamsheer, Aleksander; Bukowska-Olech, Ewelina; Latos-Bieleńska, Anna; Grenda, Ryszard; Bongers, Ernie M H F; Schmidts, Miriam; Obersztyn, Ewa; Krawczyński, Maciej R; Oud, Machteld M

Detection of asymptomatic carotid stenosis in patients with lower-extremity arterial disease: development and external validations of a risk score

下肢动脉疾病患者无症状颈动脉狭窄的检测:风险评分的开发和外部验证

M H F Poorthuis, D R Morris, G J de Borst, M L Bots, J P Greving, F L J Visseren, P Sherliker, R Clack, R Clarke, S Lewington, R Bulbulia, A Halliday

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

利用ALPACA进行基于细胞的纤毛病患者检测,以提高诊断准确性

Doornbos, Cenna; van Beek, Ronald; Bongers, Ernie M H F; Lugtenberg, Dorien; Klaren, Peter H M; Vissers, Lisenka E L M; Roepman, Ronald; Oud, Machteld M

CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies

CDH12作为后尿道瓣膜疾病肾损伤的候选基因:一项针对梗阻性尿路疾病患者的全基因组关联研究

van der Zanden, Loes F M; van Rooij, Iris A L M; Quaedackers, Josine S L T; Nijman, Rien J M; Steffens, Martijn; de Wall, Liesbeth L L; Bongers, Ernie M H F; Schaefer, Franz; Kirchner, Marietta; Behnisch, Rouven; Bayazit, Aysun K; Caliskan, Salim; Obrycki, Lukasz; Montini, Giovanni; Duzova, Ali; Wuttke, Matthias; Jennings, Rachel; Hanley, Neil A; Milmoe, Natalie J; Winyard, Paul J D; Renkema, Kirsten Y; Schreuder, Michiel F; Roeleveld, Nel; Feitz, Wout F J

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

MCM 复合物成员 MCM3 和 MCM7 与从 Meier-Gorlin 综合征到脂肪营养障碍和肾上腺功能不全的表型谱相关

Karen M Knapp, Danielle E Jenkins, Rosie Sullivan, Frederike L Harms, Leonie von Elsner, Charlotte W Ockeloen, Sonja de Munnik, Ernie M H F Bongers, Jennie Murray, Nicholas Pachter, Jonas Denecke, Kerstin Kutsche, Louise S Bicknell

An Internet-Based Psychological Intervention With a Serious Game to Improve Vitality, Psychological and Physical Condition, and Immune Function in Healthy Male Adults: Randomized Controlled Trial

严肃游戏网络心理干预对健康成年男性活力、心理、生理状况及免疫功能的影响:随机对照试验

Lemmy Schakel #, Dieuwke S Veldhuijzen, Henriët van Middendorp, Corine Prins, Anne M H F Drittij, Frank Vrieling, Leo G Visser, Tom H M Ottenhoff, Simone A Joosten, Andrea W M Evers