Zhijian Yang

138 Tongzipo Road
Changsha, 410013, China

Last Updated: 09/26/2026

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Found 36 publications

A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.

A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.

Journal: PloS one

Published: December 04, 2025

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy.

Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy.

Journal: Journal of ophthalmology

Published: November 30, 2020

Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A.

Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A.

Journal: Journal of the Chinese Medical Association : JCMA

Published: March 07, 2019

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 13, 2019

Comparative Transcriptome Combined with Proteome Analyses Revealed Key Factors Involved in Alfalfa (Medicago sativa) Response to Waterlogging Stress.

Comparative Transcriptome Combined with Proteome Analyses Revealed Key Factors Involved in Alfalfa (Medicago sativa) Response to Waterlogging Stress.

Journal: International journal of molecular sciences

Published: January 30, 2019

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.

Journal: Bioscience reports

Published: December 06, 2018

A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.

A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.

Journal: Journal of molecular neuroscience : MN

Published: August 20, 2018

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.

Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.

Journal: Digestion

Published: June 21, 2018

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.

Journal: Bioscience reports

Published: June 01, 2018

Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients.

Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients.

Journal: Genetic testing and molecular biomarkers

Published: May 30, 2018

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.

Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.

Journal: Journal of molecular neuroscience : MN

Published: May 03, 2018

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

Journal: Optometry and vision science : official publication of the American Academy of Optometry

Published: November 09, 2017

Showing 1-12 of 36

Last Updated: 09/26/2026