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

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review

男性DDX3X相关神经发育障碍——一项包含19名男性的新队列研究及文献综述

Kennis, Milou G P; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W; Boelen, Caroline; Marcelis, Carlo L M; de Vries, Bert B A; Elting, Mariet W; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S; Donnelly, Deirdre E; Rogers, R Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cécile; Sallevelt, Suzanne C E H; Maas, Saskia M; Smits, Jeroen J; van Haelst, Mieke M; Levy, Rebecca J; Stewart, Helen; Loeys, Bart L; Pfundt, Rolph; Kleefstra, Tjitske; Snijders Blok, Lot

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Shprintzen-Goldberg综合征:一项纳入29例SGS患者的国际队列研究的心血管特征随访。

Bouhatous, Yordi-Michaël; Arnaud, Pauline; Jondeau, Guillaume; Bonneau, Dominique; Rouleau, Frédéric; Plessis, Ghislaine; Vincent, Aline; Labombarda, Fabien; Maragnes, Pascale; Delanne, Julian; Muller, Matthias; Coubes, Christine; Bredy, Charlene; Gouya, Laurent; Odent, Sylvie; Basquin, Adeline; Dupuis-Girod, Sophie; Barthelet, Martine; Ginglinger, Emmanuelle; Delobel, Bruno; Vaksmann, Guy; Alessandri, Jean-Luc; Arsac, Louis André; Thomas, Edouard; Julia, Sophie; Chesneau, Bertrand; Dulac, Yves; Callewaert, Bert; Loeys, Bart; Vaerle, Maxim; Menke, Leonie A; Groenink, Maarten; Ades, Lesley; Ballesta-Martinez, Maria Juliana; Shanske, Alan L; Tinschert, Sigrid; Gehle, Petra; Thauvin-Robinet, Christel; Eicher, Jean-Christophe; Falcon-Eicher, Sylvie; Boileau, Catherine; Binquet, Christine; Hanna, Nadine; Faivre, Laurence

Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease

胸主动脉疾病评估的最低核心数据元素

Carbone, Andreina; Roman, Mary J; Russo, Melissa L; Holmes, Kathryn W; Brown-Zimmerman, Maya; Elefteriades, John; Otto, Catherine M; Burris, Nicholas S; Campello Jorge, Carlos Alberto; DeRoo, Scott C; Ouzounian, Maral; Solomon, Matthew D; Humphrey, Jay D; Loeys, Bart; Morris, Shaine A; Jondeau, Guillaume; LeMaire, Scott A; Shalhub, Sherene; Prakash, Siddharth K

Unsupervised feature extraction using deep learning empowers discovery of genetic determinants of the electrocardiogram

利用深度学习进行无监督特征提取,有助于发现心电图的遗传决定因素。

Sieliwonczyk, Ewa; Sau, Arunashis; Patlatzoglou, Konstantinos; McGurk, Kathryn A; Pastika, Libor; Thami, Prisca K; Mangino, Massimo; Zheng, Sean L; Powell, George; Curran, Lara; Buchan, Rachel J; Theotokis, Pantazis; Peters, Nicholas S; Loeys, Bart; Kramer, Daniel B; Waks, Jonathan W; Ng, Fu Siong; Ware, James S

Circulating MicroRNA as Biomarkers of Anthracycline-Induced Cardiotoxicity: JACC: CardioOncology State-of-the-Art Review

循环microRNA作为蒽环类药物诱导心脏毒性的生物标志物:JACC:心脏肿瘤学最新进展综述

Boen, Hanne M; Cherubin, Martina; Franssen, Constantijn; Gevaert, Andreas B; Witvrouwen, Isabel; Bosman, Matthias; Guns, Pieter-Jan; Heidbuchel, Hein; Loeys, Bart; Alaerts, Maaike; Van Craenenbroeck, Emeline M

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

血管型埃勒斯-当洛斯综合征:一项针对荷兰142例患者的全国性队列的综合自然史研究

Demirdas, Serwet; van den Bersselaar, Lisa M; Lechner, Rosan; Bos, Jessica; Alsters, Suzanne I M; Baars, Marieke J H; Baas, Annette F; Baysal, Özlem; van der Crabben, Saskia N; Dulfer, Eelco; Giesbertz, Noor A A; Helderman-van den Enden, Apollonia T J M; Hilhorst-Hofstee, Yvonne; Kempers, Marlies J E; Komdeur, Fenne L; Loeys, Bart; Majoor-Krakauer, Daniëlle; Ockeloen, Charlotte W; Overwater, Eline; van Tintelen, Peter J; Voorendt, Marsha; de Waard, Vivian; Maugeri, Alessandra; Brüggenwirth, Hennie T; van de Laar, Ingrid M B H; Houweling, Arjan C

Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome

研究阻断AT1R介导信号下游效应因子的策略以预防马凡综合征动脉瘤的形成

Valdivia Callejon, Irene; Buccioli, Lucia; Bastianen, Jarl; Schippers, Jolien; Verstraeten, Aline; Luyckx, Ilse; Peeters, Silke; Danser, A H Jan; Van Kimmenade, Roland R J; Meester, Josephina; Loeys, Bart

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

通过长读长测序和光学基因组图谱对未解析的结构变异进行全面表征

De Clercq, Griet; Vantomme, Lies; Dewaele, Barbara; Callewaert, Bert; Vanakker, Olivier; Janssens, Sandra; Loeys, Bart; Strazisar, Mojca; De Coster, Wouter; Vermeesch, Joris Robert; Dheedene, Annelies; Menten, Björn

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

两名互不相关的颅缝早闭和桡尺骨缝早闭患者携带纯合SMAD6变异

Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T; Van Laer, Lut; Wilkie, Andrew O M; Loeys, Bart

Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study

蒽环类化疗后癌症治疗相关心脏功能障碍患者心脏结构基因变异:一项病例对照研究

Boen, Hanne M; Alaerts, Maaike; Goovaerts, Inge; Saenen, Johan B; Franssen, Constantijn; Vorlat, Anne; Vermeulen, Tom; Heidbuchel, Hein; Van Laer, Lut; Loeys, Bart; Van Craenenbroeck, Emeline M