Haoxian Li

The State Key Laboratory Of Medical Genetics, 110 Xiangya Road
Changsha, 410078, China

Last Updated: 09/26/2026

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Found 11 publications

Widely targeted metabolomics reveal the distribution of primary and secondary metabolites in pomegranate fruit.

Widely targeted metabolomics reveal the distribution of primary and secondary metabolites in pomegranate fruit.

Journal: Food science & nutrition

Published: January 03, 2024

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Journal: Familial cancer

Published: February 11, 2017

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Journal: BMC medical genetics

Published: October 11, 2015

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Journal: American journal of medical genetics. Part A

Published: September 10, 2015

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Journal: Molecular cytogenetics

Published: August 11, 2015

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 30, 2015

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

Journal: Gene

Published: January 20, 2015

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome.

Journal: Human genome variation

Published: November 29, 2014

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Journal: Clinical chemistry

Published: November 08, 2014

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

Journal: The Journal of molecular diagnostics : JMD

Published: February 24, 2014

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing.

Journal: Prenatal diagnosis

Published: January 10, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026