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

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

22q11.2染色体重复结构的群体差异导致其对微缺失和倒位的易感性不同。

Porubsky, David; Yoo, DongAhn; Koundinya, Nidhi; Souche, Erika; Dishuck, Philip C; Dierckxsens, Nicolas; Harvey, William T; Munson, Katherine M; Hoekzema, Kendra; Chan, Daniel D; Leung, Tiffany Y; Santos, Marta S; Meynants, Senne; Swillen, Ann; Breckpot, Jeroen; Tsapalou, Vasiliki; Hasenfeld, Patrick; Korbel, Jan O; Lansdorp, Peter M; Vermeesch, Joris R; Eichler, Evan E

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

基于长读长全基因组测序的单细胞单倍型分析和非整倍体分析

Zhao, Yan; Tsuiko, Olga; Jatsenko, Tatjana; Peeters, Greet; Souche, Erika; Geysens, Mathilde; Dimitriadou, Eftychia; Vanhie, Arne; Peeraer, Karen; Debrock, Sophie; Van Esch, Hilde; Vermeesch, Joris Robert

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

长读长测序技术在发育障碍中表观遗传特征检测的临床评估

Geysens, Mathilde; Huremagic, Benjamin; Souche, Erika; Breckpot, Jeroen; Devriendt, Koenraad; Peeters, Hilde; Van Buggenhout, Griet; Van Esch, Hilde; Van Den Bogaert, Kris; Vermeesch, Joris Robert

Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome

多种旁系同源基因和重组机制导致22q11.2缺失综合征的高发病率。

Vervoort, Lisanne; Dierckxsens, Nicolas; Sousa Santos, Marta; Meynants, Senne; Souche, Erika; Cools, Ruben; Heung, Tracy; Devriendt, Koen; Peeters, Hilde; McDonald-McGinn, Donna M; Swillen, Ann; Breckpot, Jeroen; Emanuel, Beverly S; Van Esch, Hilde; Bassett, Anne S; Vermeesch, Joris R

Effectiveness of endoscopic ultrasound (EUS)-guided choledochoduodenostomy vs. EUS-guided gallbladder drainage for jaundice in patients with malignant distal biliary obstruction after failed endoscopic retrograde cholangiopancreatography: Retrospective, multicenter study (GALLBLADEUS Study)

内镜超声(EUS)引导下胆总管十二指肠吻合术与内镜超声引导下胆囊引流术治疗内镜逆行胰胆管造影术失败后恶性远端胆道梗阻患者黄疸的疗效比较:回顾性多中心研究(GALLBLADEUS 研究)

Debourdeau, Antoine; Daniel, Jules; Caillo, Ludovic; Assenat, Eric; Bertrand, Martin; Bardol, Thomas; Souche, François-Régis; Pouderoux, Philippe; Gerard, Romain; Lorenzo, Diane; Bourgaux, Jean-François

Benefit of splenectomy in distal pancreatectomy for neuroendocrine tumours: multicentre retrospective study

脾切除术在远端胰腺切除治疗神经内分泌肿瘤中的益处:多中心回顾性研究

Clément, Elise; Addeo, Pietro; Sauvanet, Alain; Turco, Célia; Marchese, Ugo; Dokmak, Safi; Laurent, Christophe; Ayav, Ahmet; Turrini, Olivier; Sulpice, Laurent; Souche, Régis; Perinel, Julie; Birnbaum, David J; Facy, Olivier; Gagnière, Johan; Schwarz, Lilian; Piessen, Guillaume; Regenet, Nicolas; Iannelli, Antonio; Regimbeau, Jean Marc; Lenne, Xavier; Heyd, Bruno; Gaujoux, Sébastien; El Amrani, Mehdi; Doussot, Alexandre

Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes

刚果民主共和国镰状细胞贫血患者生物学表达多样性的遗传调节因子:βs-珠蛋白单倍型的作用

Ngole, Mamy; Mbayabo, Gloire; Lumbala, Paul; Race, Valerie; Mvuama, Nono; Deman, Stephanie; Souche, Erika; Lukusa, Prosper Tshilobo; Van Geet, Chris; Devriendt, Koenraad; Matthijs, Gert; Lumaka, Aimé; Cleynen, Isabelle

Implementation and outcome of minimally invasive pancreatoduodenectomy in Europe: a registry-based retrospective study - a critical appraisal of the first 3 years of the E-MIPS registry

欧洲微创胰十二指肠切除术的实施及结果:一项基于注册登记的回顾性研究——对E-MIPS注册登记前3年数据的批判性评价

Emmen, Anouk M L H; de Graaf, Nine; Khatkov, I E; Busch, O R; Dokmak, S; Boggi, Ugo; Groot Koerkamp, Bas; Ferrari, Giovanni; Molenaar, I Q; Saint-Marc, Olivier; Ramera, Marco; Lips, Daan J; Mieog, J S D; Luyer, Misha D P; Keck, Tobias; D'Hondt, Mathieu; Souche, F R; Edwin, Bjørn; Hackert, Thilo; Liem, M S L; Iben-Khayat, Abdallah; van Santvoort, H C; Mazzola, Michele; de Wilde, Roeland F; Kauffmann, E F; Aussilhou, Beatrice; Festen, Sebastiaan; Izrailov, R; Tyutyunnik, P; Besselink, M G; Abu Hilal, Mohammad

Minimally invasive robot-assisted and laparoscopic distal pancreatectomy in a pan-European registry a retrospective cohort study

欧洲注册登记中微创机器人辅助和腹腔镜远端胰腺切除术的回顾性队列研究

van Bodegraven, Eduard A; van Ramshorst, Tess M E; Bratlie, Svein O; Kokkola, Arto; Sparrelid, Ernesto; Björnsson, Bergthor; Kleive, Dyre; Burgdorf, Stefan K; Dokmak, Safi; Groot Koerkamp, Bas; Cabús, Santiago Sánchez; Molenaar, I Quintus; Boggi, Ugo; Busch, Olivier R; Petrič, Miha; Roeyen, Geert; Hackert, Thilo; Lips, Daan J; D'Hondt, Mathieu; Coolsen, Mariëlle M E; Ferrari, Giovanni; Tingstedt, Bobby; Serrablo, Alejandro; Gaujoux, Sebastien; Ramera, Marco; Khatkov, Igor; Ausania, Fabio; Souche, Regis; Festen, Sebastiaan; Berrevoet, Frederik; Keck, Tobias; Sutcliffe, Robert P; Pando, Elizabeth; de Wilde, Roeland F; Aussilhou, Beatrice; Krohn, Paul S; Edwin, Bjørn; Sandström, Per; Gilg, Stefan; Seppänen, Hanna; Vilhav, Caroline; Abu Hilal, Mohammad; Besselink, Marc G

Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells

缺乏多萜醇合成基因 DHRSX 导致 Lec5 和 Lec9 中国仓鼠卵巢细胞中 N-糖基化缺陷

Takfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, Erika Souche, Céline Schulz, Julie Graff, Eline Pieters, Pamela Stanley, Joseph N Contessa, Emile Van Schaftingen, Gert Matthijs, François Foulquier, Guido T Bommer, Matthew P Wilson