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

Genome sequencing in families with congenital limb malformations

对患有先天性肢体畸形的家族进行基因组测序

Elsner, Jonas; Mensah, Martin A; Holtgrewe, Manuel; Hertzberg, Jakob; Bigoni, Stefania; Busche, Andreas; Coutelier, Marie; de Silva, Deepthi C; Elçioglu, Nursel; Filges, Isabel; Gerkes, Erica; Girisha, Katta M; Graul-Neumann, Luitgard; Jamsheer, Aleksander; Krawitz, Peter; Kurth, Ingo; Markus, Susanne; Megarbane, Andre; Reis, André; Reuter, Miriam S; Svoboda, Daniel; Teller, Christopher; Tuysuz, Beyhan; Türkmen, Seval; Wilson, Meredith; Woitschach, Rixa; Vater, Inga; Caliebe, Almuth; Hülsemann, Wiebke; Horn, Denise; Mundlos, Stefan; Spielmann, Malte

In Vivo Killing Capacity of Cytotoxic T Cells Is Limited and Involves Dynamic Interactions and T Cell Cooperativity

细胞毒性T细胞的体内杀伤能力有限,且涉及动态相互作用和T细胞协同作用。

Halle, Stephan; Keyser, Kirsten Anja; Stahl, Felix Rolf; Busche, Andreas; Marquardt, Anja; Zheng, Xiang; Galla, Melanie; Heissmeyer, Vigo; Heller, Katrin; Boelter, Jasmin; Wagner, Karen; Bischoff, Yvonne; Martens, Rieke; Braun, Asolina; Werth, Kathrin; Uvarovskii, Alexey; Kempf, Harald; Meyer-Hermann, Michael; Arens, Ramon; Kremer, Melanie; Sutter, Gerd; Messerle, Martin; Förster, Reinhold

Variants in CUL4B are associated with cerebral malformations.

CUL4B基因变异与脑畸形有关

Vulto-van Silfhout Anneke T, Nakagawa Tadashi, Bahi-Buisson Nadia, Haas Stefan A, Hu Hao, Bienek Melanie, Vissers Lisenka E L M, Gilissen Christian, Tzschach Andreas, Busche Andreas, Müsebeck Jörg, Rump Patrick, Mathijssen Inge B, Avela Kristiina, Somer Mirja, Doagu Fatma, Philips Anju K, Rauch Anita, Baumer Alessandra, Voesenek Krysta, Poirier Karine, Vigneron Jacqueline, Amram Daniel, Odent Sylvie, Nawara Magdalena, Obersztyn Ewa, Lenart Jacek, Charzewska Agnieszka, Lebrun Nicolas, Fischer Ute, Nillesen Willy M, Yntema Helger G, Järvelä Irma, Ropers Hans-Hilger, de Vries Bert B A, Brunner Han G, van Bokhoven Hans, Raymond F Lucy, Willemsen Michèl A A P, Chelly Jamel, Xiong Yue, Barkovich A James, Kalscheuer Vera M, Kleefstra Tjitske, de Brouwer Arjan P M

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1

RAB3GAP1基因纯合大片段微缺失导致瓦尔堡微综合征1型

Picker-Minh, Sylvie; Busche, Andreas; Hartmann, Britta; Spors, Birgit; Klopocki, Eva; Hübner, Christoph; Horn, Denise; Kaindl, Angela M

Nodular inflammatory foci are sites of T cell priming and control of murine cytomegalovirus infection in the neonatal lung

结节性炎症灶是新生儿肺部T细胞启动和控制小鼠巨细胞病毒感染的部位

Stahl, Felix R; Heller, Katrin; Halle, Stephan; Keyser, Kirsten A; Busche, Andreas; Marquardt, Anja; Wagner, Karen; Boelter, Jasmin; Bischoff, Yvonne; Kremmer, Elisabeth; Arens, Ramon; Messerle, Martin; Förster, Reinhold

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

30个患有1型口面指综合征的家族中发现包括整个OFD1基因缺失在内的新突变:一项关于广泛临床变异性的研究

Bisschoff, Izak J; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Rieß, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann-Sophie; Kunstmann, Erdmut; Robinson, Kristina Lagerstedt; Linné, Maja; Martin, Patricia; McGrath, James; Pradel, Winnie; Prescott, Katrina E; Roesler, Bernd; Rudolf, Gorazd; Siebers-Renelt, Ulrike; Tyshchenko, Nataliya; Wieczorek, Dagmar; Wolff, Gerhard; Dobyns, William B; Morris-Rosendahl, Deborah J