Yirou Wang

Shanghai, 200127, China

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 28 publications

Combined analysis of epigenetic and transcriptomic data from children with Wiedemann-Steiner syndrome due to variants of KMT2A gene

Combined analysis of epigenetic and transcriptomic data from children with Wiedemann-Steiner syndrome due to variants of KMT2A gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 24, 2026

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Journal: European journal of pediatrics
Published: January 23, 2026

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Journal: Translational pediatrics
Published: April 03, 2025

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

Journal: Orphanet journal of rare diseases
Published: February 09, 2025

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

Journal: European journal of pediatrics
Published: January 07, 2025

Hand X-rays findings and a disease screening for Turner syndrome through deep learning model.

Hand X-rays findings and a disease screening for Turner syndrome through deep learning model.

Journal: BMC pediatrics
Published: June 30, 2024

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Journal: Pediatric diabetes
Published: April 22, 2024

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.

A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.

Journal: Medicine
Published: January 12, 2024

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Journal: BMC pediatrics
Published: November 29, 2023

Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene

Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 02, 2023

Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene

Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 28, 2023

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Journal: Endocrine connections
Published: February 01, 2023
Showing 1-12 of 28

Last Updated: 09/26/2026