Juyi Li

No. 21 Shengli Road
Wuhan, 430021, China

Last Updated: 09/26/2026

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Found 32 publications

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome.

Compound heterozygous splicing and missense variants in MYO7A in a Chinese patient with Usher syndrome.

Journal: Frontiers in medicine

Published: March 23, 2026

A novel frameshift variant in MSH2 (p.Q170Rfs4) associated with suspected Lynch syndrome in a Chinese family.

A novel frameshift variant in MSH2 (p.Q170Rfs4) associated with suspected Lynch syndrome in a Chinese family.

Journal: Frontiers in medicine

Published: December 24, 2025

A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China.

A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China.

Journal: Frontiers in medicine

Published: October 16, 2025

Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China.

Novel MSH2 frameshift variant (c.579delG) in a patient with suspected Lynch syndrome in China.

Journal: Frontiers in medicine

Published: September 28, 2025

A multi-fractal vascular tree model for characterizing blood flow in cardiovascular system.

A multi-fractal vascular tree model for characterizing blood flow in cardiovascular system.

Journal: Scientific reports

Published: August 11, 2025

Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome.

Molecular analysis of three DNA mismatch repair protein variants in Chinese families with suspected Lynch syndrome.

Journal: Frontiers in medicine

Published: May 27, 2025

Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families.

Analyzing pathogenic variants in mismatch repair genes: personalized prevention strategies for lynch syndrome in Chinese families.

Journal: Frontiers in medicine

Published: November 13, 2024

Toxic Epidermal Necrolysis Observed in a Patient With the HLA-B*1502 Treated With Levofloxacin.

Toxic Epidermal Necrolysis Observed in a Patient With the HLA-B*1502 Treated With Levofloxacin.

Journal: Clinical therapeutics

Published: May 02, 2024

Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas.

Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas.

Journal: Heliyon

Published: April 09, 2024

Genetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz-Jeghers syndrome.

Genetic variation at a splicing branch point in intron 7 of STK11: a rare variant decreasing its expression in a Chinese family with Peutz-Jeghers syndrome.

Journal: World journal of surgical oncology

Published: April 02, 2024

Dynamical vaccination behavior with risk perception and vaccination rewards.

Dynamical vaccination behavior with risk perception and vaccination rewards.

Journal: Chaos (Woodbury, N.Y.)

Published: November 09, 2023

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families.

Journal: World journal of surgical oncology

Published: October 21, 2023

Showing 1-12 of 32

Last Updated: 09/26/2026