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

Optical genome mapping enables accurate testing of large repeat expansions

光学基因组图谱能够对大片段重复序列扩增进行精确检测

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D; Lee, Joyce; Burke, Stephanie L; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A; Voermans, Nicol C; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A; Vissers, Lisenka E L M; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants

通过对174名携带单等位基因致病变异的个体进行基因组测序,揭示罕见孟德尔遗传病中的隐性等位基因

Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P M; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G; Yntema, Helger G; Vissers, Lisenka E L M

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping

利用全基因组测序和光学基因组图谱对5例ROHHAD-NET患者进行基因评估。

van Engelen, N; van Santen, H M; van Dijk, F; Kleisman, M M; Merks, J H M; Schouten-van Meeteren, A Y N; Kamping, E J; Neveling, K; Hoischen, A; Jongmans, M C J; Kuiper, R P

Stress-induced hyperalgesia instead of analgesia in patients with chronic musculoskeletal pain

慢性肌肉骨骼疼痛患者出现应激诱发性痛觉过敏而非镇痛

Löffler, Martin; Schneider, Pia; Schuh-Hofer, Sigrid; Kamping, Sandra; Usai, Katrin; Treede, Rolf-Detlef; Nees, Frauke; Flor, Herta

Subjective outcomes 12 years after transvaginal mesh versus native tissue repair in women with recurrent pelvic organ prolapse; a randomized controlled trial

经阴道网片修补术与自体组织修补术治疗复发性盆腔器官脱垂女性患者12年后的主观疗效:一项随机对照试验

Kluivers, Kirsten B; Kamping, Metteke; Milani, Alfredo L; IntHout, Joanna; Withagen, Mariella I

Identification of Fusion Genes and Targets for Genetically Matched Therapies in a Large Cohort of Salivary Gland Cancer Patients

在大量唾液腺癌患者中识别融合基因和基因匹配治疗靶点

Gerben Lassche, Sjoerd van Helvert, Astrid Eijkelenboom, Martijn J H Tjan, Erik A M Jansen, Patricia H J van Cleef, Gerald W Verhaegh, Eveline J Kamping, Katrien Grünberg, Adriana C H van Engen-van Grunsven, Marjolijn J L Ligtenberg, Carla M L van Herpen

Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma

硬化性苔藓、分化型外阴上皮内瘤变和非HPV相关外阴鳞状细胞癌之间的克隆关系

Pouwer, Anne-Floor W; VAN DEN Einden, Loes C G; VAN DER Linden, Michelle; Hehir-Kwa, Jayne Y; Yu, Jiangyan; Hendriks, Koen M; Kamping, Eveline J; Eijkelenboom, Astrid; Massuger, Leon F A G; Bulten, Johan; VAN Tilborg, Angela A G; DE Hullu, Joanne A; Kuiper, Roland P

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

血管畸形的综合分子和临床病理分析:一项包含319例病例的研究

Ten Broek, Roel W; Eijkelenboom, Astrid; van der Vleuten, Carine J M; Kamping, Eveline J; Kets, Marleen; Verhoeven, Bas H; Grünberg, Katrien; Schultze Kool, Leo J; Tops, Bastiaan B J; Ligtenberg, Marjolijn J L; Flucke, Uta

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

影响 CTNNA1、MAP3K6 和 MYD88 的种系异常在胃癌易感性中的作用

Weren, Robbert D A; van der Post, Rachel S; Vogelaar, Ingrid P; van Krieken, J Han; Spruijt, Liesbeth; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M; van Hest, Liselotte P; Oliveira, Carla; Kamping, Eveline J; Schackert, Hans K; Ranzani, Guglielmina N; Gómez García, Encarna B; Hes, Frederik J; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G E M; Sijmons, Rolf H; Wagner, Anja; van der Kolk, Lizet E; Cats, Annemieke; Bjørnevoll, Inga; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J L

Impact of controllability on pain and suffering

可控性对疼痛和痛苦的影响

Löffler, Martin; Kamping, Sandra; Brunner, Michael; Bustan, Smadar; Kleinböhl, Dieter; Anton, Fernand; Flor, Herta