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

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

罕见SLC35A1-CDG中的一种新型错义变异会改变细胞糖基化、脂质和能量代谢,但不影响CDG血清标志物

Falkenstein Kristina, Hoeren Lukas, Kikul Frauke, Poschet Gernot, Lüchtenborg Christian, Brecht Ines B, Falb Ruth, Gauck Darja, Haack Tobias, Hecker Andreas, Himmelreich Nastassja, Okun Jürgen G, Brügger Britta, Thiel Christian

Iron nutrition and COVID-19 among Nigerian healthcare workers

尼日利亚医护人员的铁营养状况与新冠肺炎

Wander, Katherine; Ogunleye, Olayinka O; Nwagu, Evelyn N; Unigwe, Uche S; Odo, Amelia N; Chukwubike, Chinedu M; Omilabu, Sunday A; Salu, Olumuyiwa B; Owolabi, Bukola S; Osikomaiya, Bodunrin I; Ebede, Samuel O; Bowale, Abimbola; Olaitan, Abimbola O; Chukwu, Christopher U; Ndiokwelu, Chibuzo O; Edu-Alamba, Chioma; Azubuike, Constance; Odubiyi, Oluwasegun A; Hassan, Yusuf A; Oloniniyi, Nifemi; Muyiwa Kelvin, Akinrinlola; Rashidat Abiola, Raheem; Saliu, Amina; Fadipe, Ololade O; Anyanwu, Roosevelt A; Orenolu, Mercy R; Abdullah, Maryam A; Ishaya, Onyinye D; Agulefo, Chinenye J; Akase, Iorhen E; Gauck, Megan E; Huang, Zifan; Chen, Mei-Hsiu; Okoror, Titilayo A; Fujita, Masako

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

KIF21A基因的双等位基因功能缺失变异会导致严重的胎儿运动不能伴多发性关节挛缩。

Falb, Ruth J; Müller, Amelie J; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stöbe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M C; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmüller, Stephan; Beck-Wödl, Stefanie; Gläser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes

人类 COQ4 缺乏症:描述临床、代谢和神经影像学表型

Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Rebecca Buchert, Ruth Falb, Darja Gauck, Amelie Müller, Mona Grimmel, Stefanie Beck-Woedel, Jan Kern, Karim Daliri, Pegah Katibeh, Katharina Danhauser, Steffen Leiz, Viola Alesi, Fabian Baertling, Gessica Vasco, Robert Stei

Tradeoffs in milk immunity affect infant infectious disease risk

牛奶免疫力的权衡影响婴儿传染病风险

Katherine Wander, Masako Fujita, Siobhan M Mattison, Margaret Duris, Megan Gauck, Tessa Hopt, Katherine Lacy, Angela Foligno, Rebecca Ulloa, Connor Dodge, Frida Mowo, Ireen Kiwelu, Blandina T Mmbaga

Implications for a Wireless, External Device System to Study Electrocorticography

无线外部设备系统在研究脑电图方面的意义

Rotermund, David; Pistor, Jonas; Hoeffmann, Janpeter; Schellenberg, Tim; Boll, Dmitriy; Tolstosheeva, Elena; Gauck, Dieter; Stemmann, Heiko; Peters-Drolshagen, Dagmar; Kreiter, Andreas Kurt; Schneider, Martin; Paul, Steffen; Lang, Walter; Pawelzik, Klaus Richard

Hybrid clone cells derived from human breast epithelial cells and human breast cancer cells exhibit properties of cancer stem/initiating cells

来自人类乳腺上皮细胞和人类乳腺癌细胞的混合克隆细胞表现出癌症干细胞/起始细胞的特性

Daria Gauck, Silvia Keil, Bernd Niggemann, Kurt S Zänker, Thomas Dittmar

Rhomboid Enhancer Activity Defines a Subset of Drosophila Neural Precursors Required for Proper Feeding, Growth and Viability

菱形增强子活性定义了果蝇正常进食、生长和生存所需的神经前体子集

Amy L Gresser, Lisa M Gutzwiller, Mackenzie K Gauck, Volker Hartenstein, Tiffany A Cook, Brian Gebelein

Cellular trafficking determines the exon skipping activity of Pip6a-PMO in mdx skeletal and cardiac muscle cells

细胞运输决定了 Pip6a-PMO 在 mdx 骨骼肌细胞和心肌细胞中的外显子跳跃活性

Taavi Lehto, Alejandra Castillo Alvarez, Sarah Gauck, Michael J Gait, Thibault Coursindel, Matthew J A Wood, Bernard Lebleu, Prisca Boisguerin