Panpan Ma

发表

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Zongfu Cao, Xu Ma, Chuan Zhang, 2020, Journal of clinical laboratory analysis.

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia

Zhongfeng Ding, L. Hui, Chuan Zhang, 2022, Frontiers in Genetics.

Multi-objective and multi-scheme research on water and sediment regulation potential of reservoirs in the upper Yellow River

Jia Wan, T. Bai, Wenting Jin, 2022, International Journal of Sediment Research.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Journal of clinical laboratory analysis.

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Scientific Reports.

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Human Genomics.

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Orphanet Journal of Rare Diseases.

A novel LOXHD1 variant in a Chinese couple with hearing loss

Xiaojuan Lin, Yousheng Yan, Chuan Zhang, 2019, The Journal of international medical research.

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family

Chuan Zhang, S. Hao, Xue Chen, 2023, Molecular genetics & genomic medicine.