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BMC Medical Genetics|November 16, 2019
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single centerJingjing Zhang, Dingyuan Ma, Gang Liu, et al.
Clinical Biochemistry|June 20, 2020
A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4Gang Liu, Dingyuan Ma, Jiahuang Li, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type NascimentoDingyuan Ma, Jianxin Tan, Jing Zhou, et al.
Frontiers in Genetics|March 1, 2018
Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular DystrophyJing Zhou, Jianxin Tan, Dingyuan Ma, et al.
Organic & Biomolecular Chemistry|June 11, 2021
A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylaseZhilei Zhang, Dingyuan Ma, Xin Wang, et al.
Cellular & Molecular Immunology|January 3, 2009
Expression of recombinant human FADD, preparation of its polyclonal antiserum and the application in immunoassaysFaiz M M T Marikar, Dingyuan Ma, Jianqiang Ye, et al.
The Journal of Molecular Diagnostics : JMD|March 25, 2020
Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant WomenJingjing Zhang, Yuguo Wang, Dingyuan Ma, et al.
European Journal of Medical Genetics|April 9, 2011
22q11.2 microduplication in a family with recurrent fetal congenital heart diseasePing Hu, Xiuqing Ji, Chi Yang, et al.
Frontiers in Genetics|May 10, 2018
A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine DiseaseGang Liu, Dingyuan Ma, Ping Hu, et al.
BMC Medical Genetics|April 14, 2018
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case reportGang Liu, Dingyuan Ma, Jian Cheng, et al.
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