Li'na Liu

发表

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome

X. Kong, Xueliang Shang, Xuechao Zhao, 2020, Biomedical reports.

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectrum in hereditary retinopathy genes through targeted sequencing technology

X. Kong, Li'na Liu, Yuying Liu, 2020 .

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China

X. Kong, P. Dai, Xuechao Zhao, 2022, Frontiers in Medicine.

Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

X. Kong, P. Dai, Li'na Liu, 2021, BMC medical genomics.

DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years

X. Kong, Li'na Liu, S. Cui, 2021, BMC medical genomics.

Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

X. Kong, Li'na Liu, S. Cui, 2019, BMC Medical Genetics.

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.

X. Kong, Xuechao Zhao, Chen Chen, 2020, European journal of medical genetics.

Noninvasive prenatal testing of Duchenne muscular dystrophy in a twin gestation

X. Kong, Zhen-hua Zhao, Li'na Liu, 2022, Prenatal diagnosis.

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

X. Kong, Zhen-hua Zhao, Li'na Liu, 2021, Frontiers in Genetics.

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

X. Kong, P. Dai, Xuechao Zhao, 2019, Molecular Cytogenetics.

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

X. Kong, Li'na Liu, Ju Liu, 2022, Frontiers in Genetics.

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

X. Kong, Xuechao Zhao, Chen Chen, 2019, Molecular genetics & genomic medicine.

[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism].

X. Kong, Xuechao Zhao, Chen Chen, 2020, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

X. Kong, Li'na Liu, Yuying Liu, 2021, BMC Medical Genomics.

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment.

Li'na Liu, G. Zhao, Li Wang, 2024, Clinica chimica acta; international journal of clinical chemistry.