Hong Xia

发表

Genetic basis of human left–right asymmetry disorders

H. Deng, S. Deng, H. Xia, 2014, Expert Reviews in Molecular Medicine.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

H. Deng, L. Guan, Wen Zheng, 2017, Journal of cellular and molecular medicine.

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

H. Deng, W. Xiong, P. Hu, 2017, Molecular medicine reports.

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

H. Deng, Wen Zheng, Yan Yang, 2016, Neuroscience Letters.

An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

H. Deng, P. Hu, H. Xia, 2017, Current genomics.

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease

H. Zhang, Jun Liu, H. Deng, 2017, Current genomics.

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Heng Xiao, Hongwei Lu, H. Deng, 2018, Cellular Physiology and Biochemistry.

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

H. Deng, W. Xiong, S. Deng, 2020, Bioscience reports.

Identification of novel compound heterozygous variants in the DNAH1 gene of a Chinese family with left-right asymmetry disorder

Heng Xiao, Yan Yang, H. Deng, 2023, Frontiers in Molecular Biosciences.

Clinical, radiological and pathological characteristics of moderate to fulminant psittacosis pneumonia

Tao Xiao, Kun Yan, Jiongxing Wu, 2022, PloS one.

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome

H. Deng, H. Xia, Yi Guo, 2021, Frontiers in Cardiovascular Medicine.

Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing

Fengping Xu, H. Deng, Song Wu, 2015, Biological chemistry.

Identification of compound heterozygous DNAH11 variants in a Han‐Chinese family with primary ciliary dyskinesia

H. Deng, S. Deng, H. Xia, 2021, Journal of cellular and molecular medicine.

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

H. Deng, S. Deng, Yan Yang, 2021, PloS one.

Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.

Hongbo Xu, H. Deng, S. Deng, 2020, Experimental and therapeutic medicine.

Identification of DNAH17 Variants in Han-Chinese Patients With Left–Right Asymmetry Disorders

Xiaolong Tu, H. Deng, S. Deng, 2022, Frontiers in Genetics.

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss

H. Deng, W. Xiong, Zhijian Yang, 2016, Acta oto-laryngologica.

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Guangxiang He, H. Deng, P. Hu, 2015, PloS one.

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism

H. Deng, Wen Zheng, Yan Yang, 2016, Neuroscience Letters.