Shiyan Qiu

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Journal: Frontiers in neurology

Published: June 05, 2025

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Journal: Molecular genetics & genomic medicine

Published: April 24, 2025

Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene

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

Published: April 29, 2024

Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene

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

Published: April 29, 2024

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

Journal: Seizure

Published: April 24, 2024

Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene

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

Published: February 04, 2024

Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene

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

Published: February 04, 2024

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

Journal: Epilepsia open

Published: October 14, 2023

Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene

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

Published: August 29, 2023

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene

Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene

Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene

Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene

Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene

Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene

Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene

Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.