Jinjie Xue

Taiyuan, 030013, China

Last Updated: 09/26/2026

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Found 9 publications

Density functional theory studies on cytosine analogues for inducing double-proton transfer with guanine.

Density functional theory studies on cytosine analogues for inducing double-proton transfer with guanine.

Journal: Scientific reports

Published: February 03, 2020

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Journal: Molecular genetics & genomic medicine

Published: October 12, 2019

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Journal: BMC medical genetics

Published: July 20, 2018

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 19, 2016

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Journal: BMC medical genetics

Published: July 15, 2016

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.

Journal: Journal of medical genetics

Published: November 29, 2013

Clinical reasoning: a young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy.

Clinical reasoning: a young man with reversible paralysis, cerebral white matter lesions, and peripheral neuropathy.

Journal: Neurology

Published: August 24, 2012

Novel multiplex primer extension and denaturing high-performance liquid chromatography for genotyping of the deafness gene mutations.

Novel multiplex primer extension and denaturing high-performance liquid chromatography for genotyping of the deafness gene mutations.

Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Published: December 16, 2011

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

Journal: Gene

Published: December 12, 2011

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Last Updated: 09/26/2026