Juan Li

Lanzhou, 730000, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 8 publications

Pharmacological readthrough and base editing for ANK1 nonsense mutations in an erythroid model of hereditary spherocytosis.

Pharmacological readthrough and base editing for ANK1 nonsense mutations in an erythroid model of hereditary spherocytosis.

Journal: Molecular therapy. Nucleic acids

Published: December 10, 2025

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.

Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.

Journal: Genome medicine

Published: July 31, 2025

Association of ABCB1 and MTHFR genetic polymorphisms with rheumatoid arthritis susceptibility in a Chinese population.

Association of ABCB1 and MTHFR genetic polymorphisms with rheumatoid arthritis susceptibility in a Chinese population.

Journal: Frontiers in medicine

Published: July 06, 2025

Advance of research on Phelan-McDermid syndrome

Advance of research on Phelan-McDermid syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 06, 2021

A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.

A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.

Journal: Annals of hematology

Published: May 21, 2021

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.

Journal: BMC medical genomics

Published: April 16, 2020

Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda

Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 10, 2014

Identification of a novel PAX6 mutation in a family with congenital aniridia

Identification of a novel PAX6 mutation in a family with congenital aniridia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 01, 2013

Showing 1-8 of 8

Last Updated: 09/26/2026