Liangshan Li

Jinan, 250001, China

Last Updated: 09/26/2026

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Found 12 publications

Analysis of the prevalence and clinical characteristics of pertussis in children with different cough durations

Analysis of the prevalence and clinical characteristics of pertussis in children with different cough durations

Journal: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]

Published: November 25, 2025

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.

Journal: European journal of medical research

Published: April 30, 2022

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Journal: Endocrine

Published: April 27, 2022

The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.

The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: June 06, 2021

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.

Journal: Frontiers in pediatrics

Published: January 10, 2021

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 17, 2020

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.

Journal: Endocrine

Published: June 10, 2020

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.

Journal: The journal of gene medicine

Published: January 16, 2020

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Journal: Molecular genetics & genomic medicine

Published: September 13, 2019

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

Journal: Immunological investigations

Published: August 13, 2019

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.

Journal: Molecular medicine reports

Published: June 09, 2019

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Journal: BMC medical genetics

Published: January 20, 2019

Showing 1-12 of 12

Last Updated: 09/26/2026