TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19

par Axel Schmidt, Sophia Peters, Alexej Knaus, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, Sugirthan Sivalingam, Oleksandr Savchenko, Aakash Mantri, Dirk Holzinger, Ulrich Neudorf, Andreas Müller, Kerstin U. Ludwig, Peter M. Krawitz, Hartmut Engels, Markus M. Nöthen, Soyhan Bagci
Publié 2021

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

par Yanqin Yu, Xianbo Zuo, Miao He, Jinping Gao, Yuchuan Fu, Chuanqi Qin, Liuyan Meng, Wenjun Wang, Yaling Song, Yong Cheng, Fusheng Zhou, Gang Chen, Xiaodong Zheng, Xinhuan Wang, Bo Liang, Zhengwei Zhu, Xiazhou Fu, Yujun Sheng, Jiebing Hao, Zhongyin Liu, Hansong Yan, Elisabeth Mangold, Ingo Ruczinski, Jianjun Liu, Mary L. Marazita, Kerstin U. Ludwig, Terri H. Beaty, Xuejun Zhang, Liangdan Sun, Zhuan Bian
Publié 2017