Wei-wei Li

305 East Zhongshan Road
Nanjing, 210002, China

Last Updated: 09/26/2026

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Found 8 publications

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.

Journal: Journal of genetics

Published: January 12, 2018

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Journal: PloS one

Published: November 25, 2016

A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.

Journal: Molecular medicine reports

Published: September 29, 2014

A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.

A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.

Journal: Journal of genetics

Published: September 06, 2014

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

Journal: Molecular medicine reports

Published: May 29, 2014

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.

Journal: BMC medical genetics

Published: May 04, 2014

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.

Journal: BMC ophthalmology

Published: March 10, 2014

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

Journal: Molecular medicine reports

Published: August 30, 2013

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Last Updated: 09/26/2026