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

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

MNS1 中的双等位基因变异与侧向性缺陷和呼吸系统受累相关

Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

嵌合体个体中 DNMT3A 突变克隆的组织偏向性扩增与保守的表观遗传侵蚀有关

Ayala Tovy, Jaime M Reyes, Michael C Gundry, Lorenzo Brunetti, Henry Lee-Six, Mia Petljak, Hyun Jung Park, Anna G Guzman, Carina Rosas, Aaron R Jeffries, Emma Baple, Jonathan Mill, Andrew H Crosby, Valerie Sency, Baozhong Xin, Heather E Machado, Danielle Castillo, Jeffrey N Weitzel, Wei Li, Michael

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Galloway-Mowat 综合征谱中的隐性肾小脑综合征是由 WDR73 的纯合蛋白截短突变引起的

Robert N Jinks, Erik G Puffenberger, Emma Baple, Brian Harding, Peter Crino, Agnes B Fogo, Olivia Wenger, Baozhong Xin, Alanna E Koehler, Madeleine H McGlincy, Margaret M Provencher, Jeffrey D Smith, Linh Tran, Saeed Al Turki, Barry A Chioza, Harold Cross, Gaurav V Harlalka, Matthew E Hurles, Reza M

Virus recognition by specific natural antibodies and complement results in MHC I cross-presentation

特定天然抗体和补体识别病毒,导致 MHC I 交叉呈递

Antoine Dürrbach, Emma Baple, Andrew F Preece, Bernard Charpentier, Kenth Gustafsson