Case Report: Diagnosis of Human Alveolar Echinococcosis via Next-Generation Sequencing Analysis

por Li, Ke, Ma, Yubao, Ban, Rui, Shi, Qiang
Publicado 2021

Metabolic and genetic factors affecting the productivity of pyrimidine nucleoside in Bacillus subtilis

por Zhu, Hui, Yang, Shao-Mei, Yuan, Zhao-Min, Ban, Rui
Publicado 2015

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

por Liu, Hua-Xu, Pu, Chuan-Qiang, Shi, Qiang, Zhang, Yu-Tong, Ban, Rui
Publicado 2018

Comparison of the Unfolded Protein Response in Cellobiose Utilization of Recombinant Angel- and W303-1A-Derived Yeast Expressing β-Glucosidase

por Zou, Shaolan, Jia, Yudie, He, Qing, Zhang, Kun, Ban, Rui, Hong, Jiefang, Zhang, Minhua
Publicado 2022

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

por Ban, Rui, Guo, Jun-Hong, Pu, Chuan-Qiang, Shi, Qiang, Liu, Hua-Xu, Zhang, Yu-Tong
Publicado 2018

Reply to “Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers”

por Ban, Rui, Guo, Jun-Hong, Pu, Chuan-Qiang, Shi, Qiang, Liu, Hua-Xu, Zhang, Yu-Tong
Publicado 2018

Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy

por Zhang, Yu-Tong, Pu, Chuan-Qiang, Ban, Rui, Liu, Hua-Xu, Shi, Qiang, Lu, Xiang-Hui
Publicado 2018

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

por Chen, Ting, Lu, Xiang-Hui, Wang, Hui-Fang, Ban, Rui, Liu, Hua-Xu, Shi, Qiang, Wang, Qian, Yin, Xi, Pu, Chuan-Qiang
Publicado 2016

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

por Ban, Rui, Liu, Zhimei, Shimura, Masaru, Tong, Xiao, Wang, Junling, Yang, Lei, Xu, Manting, Xiao, Jing, Murayama, Kei, Elstner, Matthias, Prokisch, Holger, Fang, Fang
Publicado 2021

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

por Liu, Zhimei, Zhang, Li, Ren, Changhong, Xu, Manting, Li, Shufang, Ban, Rui, Wu, Ye, Chen, Ling, Sun, Suzhen, Elstner, Matthias, Shimura, Masaru, Ogawa-Tominaga, Minako, Murayama, Kei, Shi, Tieliu, Prokisch, Holger, Fang, Fang
Publicado 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022