Ya-li Li

Shijiazhuang, China

Last Updated: 09/26/2026

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Found 10 publications

A novel mutation in SETD1A is associated with early-onset epilepsy-a rare case report.

A novel mutation in SETD1A is associated with early-onset epilepsy-a rare case report.

Journal: Frontiers in neuroscience

Published: April 25, 2026

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report.

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report.

Journal: Medicine

Published: June 09, 2025

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Journal: DNA and cell biology

Published: May 03, 2024

Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.

Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.

Journal: Journal of clinical laboratory analysis

Published: December 23, 2023

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Journal: Molecular biology reports

Published: November 08, 2023

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.

Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts.

Journal: Frontiers in medicine

Published: November 04, 2023

Clinical features and genetics analysis of a Chinese pedigree affected with developmental and epileptic encephalopathy 9

Clinical features and genetics analysis of a Chinese pedigree affected with developmental and epileptic encephalopathy 9

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

Published: September 09, 2022

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Journal: Frontiers in pediatrics

Published: September 12, 2021

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.

Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion.

Journal: Frontiers in genetics

Published: August 19, 2021

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Journal: BMC medical genetics

Published: May 16, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026