Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

por Luo, Fang-Mei, Fan, Liang-Liang, Sheng, Yue, Dong, Yi, Liu, Lv
Publicado 2021

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

por Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Publicado 2021

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

por Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Publicado 2021

ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics

por Zeng, Lei, Jin, Jie-Yuan, Luo, Fang-Mei, Sheng, Yue, Wu, Pan-Feng, Xiang, Rong
Publicado 2022

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly

por Wang, Tao, Liu, Yu-Xing, Luo, Fang-Mei, Dong, Yi, Li, Ya-Li, Fan, Liang-Liang
Publicado 2021

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

por Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
Publicado 2020

Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis

por Liu, Yu-Xing, Zhang, Ai-Qian, Luo, Fang-Mei, Sheng, Yue, Wang, Chen-Yu, Dong, Yi, Fan, Liangliang, Liu, Lv
Publicado 2021

GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis

por Jin, Jie-Yuan, Wu, Pan-Feng, Luo, Fang-Mei, Guo, Bing-Bing, Zeng, Lei, Fan, Liang-Liang, Tang, Ju-Yu, Xiang, Rong
Publicado 2022

Artemisia pollen allergy in China: Component‐resolved diagnosis reveals allergic asthma patients have significant multiple allergen sensitization

por Gao, Zhongshan, Fu, Wan‐Yi, Sun, Yuemei, Gao, Biyuan, Wang, Hui‐Ying, Liu, Meiling, Luo, Fang‐Mei, Zhou, Xiang, Jin, Jing, Zhao, Lan, Wu, Shandong, Liu, Yi, Wu, Lingying, Wang, Xuefeng, Tang, Ning‐Bo, Guo, Bao‐Hua, Feng, Yan, Zhou, Jian Ying, Gadermaier, Gabriele, Ferreira, Fatima, Versteeg, Serge A., van Ree, Ronald
Publicado 2018