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

Trio Exome Sequencing in VACTERL Association

VACTERL 关联中的三重外显子组测序

Ćomić, Jasmina; Tilch, Erik; Riedhammer, Korbinian M; Brugger, Melanie; Brunet, Theresa; Eyring, Katharina; Vill, Katharina; Redler, Silke; Tasic, Velibor; Schmiedeke, Eberhard; Schäfer, Frank-Mattias; Abazi-Emini, Nora; Jenetzky, Ekkehart; Schwarzer, Nicole; Widenmann, Anke; Lacher, Martin; Zech, Michael; Grasshoff-Derr, Sabine; Geßner, Michaela; Kabs, Carmen; Seitz, Barbara; Heydweiller, Andreas C; Muensterer, Oliver; Lange-Sperandio, Bärbel; Rolle, Udo; Schumacher, Johannes; Braunisch, Matthias C; Berutti, Riccardo; Reutter, Heiko; Hoefele, Julia

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

CEP162 缺陷会导致人类视网膜变性,并揭示其在纤毛发生和神经发生中的双重作用

Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Dueñas; Käseberg, Stephan; Jäger, Melanie; Willer, Jason R; Winter, Jennifer; Truong, Hanh M; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stöhr, Heidi; Mansard, Luke; Roux, Anne-Françoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M; Van Lint, Michel; Rossmann, Heidi; Häuser, Friederike; Nürnberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N; De Baere, Elfride; Bolz, Hanno J

European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations

欧洲ARM-Net成员关于新生儿肛门直肠畸形诊断和早期治疗的共识会议

van der Steeg, H J J; Schmiedeke, E; Bagolan, P; Broens, P; Demirogullari, B; Garcia-Vazquez, A; Grasshoff-Derr, S; Lacher, M; Leva, E; Makedonsky, I; Sloots, C E J; Schwarzer, N; Aminoff, D; Schipper, M; Jenetzky, E; van Rooij, I A L M; Giuliani, S; Crétolle, C; Holland Cunz, S; Midrio, P; de Blaauw, I

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

VATER/VACTERL综合征患者中1q41、2q37.3和8q24.3位点的新生微重复

Hilger, Alina; Schramm, Charlotte; Pennimpede, Tracie; Wittler, Lars; Dworschak, Gabriel C; Bartels, Enrika; Engels, Hartmut; Zink, Alexander M; Degenhardt, Franziska; Müller, Annette M; Schmiedeke, Eberhard; Grasshoff-Derr, Sabine; Märzheuser, Stefanie; Hosie, Stuart; Holland-Cunz, Stefan; Wijers, Charlotte H W; Marcelis, Carlo L M; van Rooij, Iris A L M; Hildebrandt, Friedhelm; Herrmann, Bernhard G; Nöthen, Markus M; Ludwig, Michael; Reutter, Heiko; Draaken, Markus

Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

辅助生殖技术与肛门直肠畸形风险:一项德国病例对照研究

Zwink, Nadine; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Schmidt, Dominik; Märzheuser, Stefanie; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Weih, Sandra; Hosie, Stuart; Reifferscheid, Peter; Ameis, Helen; Kujath, Christina; Rissmann, Anke; Obermayr, Florian; Schwarzer, Nicole; Bartels, Enrika; Reutter, Heiko; Brenner, Hermann

Inheritance of the VATER/VACTERL association

VATER/VACTERL协会的继承

Bartels, Enrika; Jenetzky, Ekkehart; Solomon, Benjamin D; Ludwig, Michael; Schmiedeke, Eberhard; Grasshoff-Derr, Sabine; Schmidt, Dominik; Märzheuser, Stefanie; Hosie, Stuart; Weih, Sandra; Holland-Cunz, Stefan; Palta, Markus; Leonhardt, Johannes; Schäfer, Mattias; Kujath, Christina; Rissmann, Anke; Nöthen, Markus M; Reutter, Heiko; Zwink, Nadine

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

利用国际肛门直肠畸形联盟的数据,探讨先天性肛门直肠畸形病因学的研究视角:不同人群风险因素的证据

Wijers, Charlotte H W; de Blaauw, Ivo; Marcelis, Carlo L M; Wijnen, Rene M H; Brunner, Han; Midrio, Paola; Gamba, Piergiorgio; Clementi, Maurizio; Jenetzky, Ekkehart; Zwink, Nadine; Reutter, Heiko; Bartels, Enrika; Grasshoff-Derr, Sabine; Holland-Cunz, Stefan; Hosie, Stuart; Märzheuser, Stefanie; Schmiedeke, Eberhard; Crétolle, Célia; Sarnacki, Sabine; Levitt, Marc A; Knoers, Nine V A M; Roeleveld, Nel; van Rooij, Iris A L M