Na Ma

发表

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

Jing Liu, Hao Hu, Na Ma, 2016, Molecular Cytogenetics.

Huntington disease--another chapter rewritten.

Na Ma, 1996 .

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

Zhuo Li, Jing Liu, Ying Peng, 2021, Molecular genetics & genomic medicine.

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

J. Chen, G. Lin, Yueqiu Tan, 2019, Journal of Human Genetics.

Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome

Jing Liu, Ying Peng, Chengyuan Tang, 2020, Molecular genetics & genomic medicine.

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

Ying Peng, Wanqin Xie, Na Ma, 2020, Molecular Cytogenetics.

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Qi Yang, Fan Liang, Kai Wang, 2018, Hereditas.

Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Na Ma, Hua Wang, Hui Xi, 2022, European journal of human genetics : EJHG.

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Jing Liu, Jing Chen, Jing Liu, 2023, Frontiers in Genetics.

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Na Ma, J. Du, Xiurong Li, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Jing Liu, Ying Peng, Jing Chen, 2020, BMC medical genomics.

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Qi Yang, Fan Liang, Kai Wang, 2018, bioRxiv.

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I

D. Liang, Zhuo Li, Lingqian Wu, 2023, Frontiers in genetics.

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Jing Liu, Ying Peng, Zhenhua Zhu, 2021, Molecular genetics & genomic medicine.

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

J. Chen, G. Lin, Yueqiu Tan, 2019, Journal of Human Genetics.