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

Exploring blood transcriptional signatures for thrombosis diagnosis in critically ill patients with COVID-19

探索COVID-19危重患者血栓诊断的血液转录特征

Cristella, Cosimo; Raadsen, Matthijs P; van Willigen, Hugo D G; de Haan, Karen; van Leeuwen, Sarah; Toliat, Mohammad R; Dalibor, Niculina; Aynekulu Mersha, Daniel G; van den Akker, Johannes P C; Endeman, Henrik; Fraaij, Pieter L A; Gommers, Diederik A M P J; van Gorp, Eric C M; Juffermans, Nicole P; Scicluna, Brendon P; Hofstra, Jorrit J; Koopmans, Marion P G; de Jong, Menno D

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy

PRRT2双等位基因变异可能使人易患自限性家族性婴儿癫痫

Koko, Mahmoud; Elseed, Maha A; Mohammed, Inaam N; Hamed, Ahlam A; Abd Allah, Amal S I; Yahia, Ashraf; Siddig, Rayan A; Altmüller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O; Amin, Mutaz; Ahmed, Elhami A; Eltazi, Isra Z M; Elmugadam, Fatima A; Abdelgadir, Wasma A; Eltaraifee, Esraa; Ibrahim, Mohamed O M; Ali, Nabila M H; Malik, Hiba M; Babai, Arwa M; Bakhit, Yousuf H; Nürnberg, Peter; Ibrahim, Muntaser E; Salih, Mustafa A; Schubert, Julian; Elsayed, Liena E O; Lerche, Holger

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

双等位基因 MAD2L1BP (p31comet) 突变与嵌合性非整倍体和幼年颗粒细胞肿瘤相关

Ghada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M Eid, Holger Thiele, Peter Nürnberg, Birgit S Budde, Mohammad Reza Toliat, Ines B Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Moh

Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes

对BPD中免疫相关基因关联的验证支持ABCA3和其他五个基因。

Blume, Felix; Kirsten, Holger; Ahnert, Peter; Chakraborty, Trinad; Gross, Arnd; Horn, Katrin; Toliat, Mohammad Reza; Nürnberg, Peter; Westenfelder, Eva-Maria; Goepel, Wolfgang; Scholz, Markus

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans

在德国人中鉴定出两种新的大疱性类天疱疮相关等位基因,HLA-DQA1*05:05 和 -DRB1*07:01

Schwarm, Christian; Gola, Damian; Holtsche, Maike M; Dieterich, Anabelle; Bhandari, Anita; Freitag, Miriam; Nürnberg, Peter; Toliat, Mohammad; Lieb, Wolfgang; Wittig, Michael; Franke, André; Worm, Margitta; Sticherling, Michael; Ehrchen, Jan; Günther, Claudia; Gläser, Regine; Peitsch, Wiebke K; Sárdy, Miklós; Eming, Rüdiger; Hertl, Michael; Benoit, Sandrine; Goebeler, Matthias; Pföhler, Claudia; Kunz, Manfred; Kreuter, Alexander; van Beek, Nina; Erdmann, Jeanette; Busch, Hauke; Zillikens, Detlef; Sadik, Christian D; Hirose, Misa; König, Inke R; Schmidt, Enno; Ibrahim, Saleh M

cfNOMe - A single assay for comprehensive epigenetic analyses of cell-free DNA

cfNOMe——一种用于对无细胞DNA进行全面表观遗传分析的单一检测方法

Erger, Florian; Nörling, Deborah; Borchert, Domenica; Leenen, Esther; Habbig, Sandra; Wiesener, Michael S; Bartram, Malte P; Wenzel, Andrea; Becker, Christian; Toliat, Mohammad R; Nürnberg, Peter; Beck, Bodo B; Altmüller, Janine

Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

不一致兄弟姐妹的遗传信息表明,ESRP2 是 CF 修饰基因 SCNN1B 的候选反式调节因子

Tim Becker, Andreas Pich, Stephanie Tamm, Silke Hedtfeld, Mohammed Ibrahim, Janine Altmüller, Nina Dalibor, Mohammad Reza Toliat, Sabina Janciauskiene, Burkhard Tümmler, Frauke Stanke

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration

对继发于年龄相关性黄斑变性的地图状萎缩中新的全基因组显著基因位点和病变生长情况的评估

Grassmann, Felix; Harsch, Sebastian; Brandl, Caroline; Kiel, Christina; Nürnberg, Peter; Toliat, Mohammad R; Fleckenstein, Monika; Pfau, Maximilian; Schmitz-Valckenberg, Steffen; Holz, Frank G; Chew, Emily Y; Swaroop, Anand; Ratnapriya, Rinki; Klein, Michael L; Mulyukov, Zufar; Zamiri, Parisa; Weber, Bernhard H F

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

SSBP1 突变导致显性视神经萎缩伴有可变性视网膜变性

Neringa Jurkute, Costin Leu, Hans-Martin Pogoda, Gavin Arno, Anthony G Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad Reza Toliat, Kate Powell, Wolfgang Höhne, Michel Michaelides, Andrew R Webster, Anthony T Moore, Matthias Hammerschmidt, Peter Nürnberg, Patrick

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration

编码牛磺酸转运蛋白 TAUT 的人类 SLC6A6 的双等位基因突变与早期视网膜变性有关

Markus N Preising, Boris Görg, Christoph Friedburg, Natalia Qvartskhava, Birgit S Budde, Michele Bonus, Mohammad R Toliat, Christopher Pfleger, Janine Altmüller, Diran Herebian, Mila Beyer, Helge J Zöllner, Hans-Jörg Wittsack, Jörg Schaper, Dirk Klee, Ulrich Zechner, Peter Nürnberg, Jörg Schipper, A