Ru-en Yao

Shanghai, 200127, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 21 publications

Clinical features and variant spectrum of FGFR3-related disorders

Clinical features and variant spectrum of FGFR3-related disorders

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: October 22, 2025

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 22, 2025

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Journal: Orphanet journal of rare diseases

Published: June 10, 2025

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Journal: Epilepsy & behavior reports

Published: May 13, 2025

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

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Journal: Orphanet journal of rare diseases

Published: September 08, 2023

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.

Journal: Molecular genetics & genomic medicine

Published: March 28, 2023

Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.

Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.

Journal: Neurogenetics

Published: December 06, 2022

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

Journal: Frontiers in endocrinology

Published: October 10, 2022

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Journal: Orphanet journal of rare diseases

Published: September 28, 2022

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9.

Journal: Frontiers in genetics

Published: May 10, 2022

Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.

Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype.

Journal: Neurogenetics

Published: September 17, 2021

Showing 1-12 of 21

Last Updated: 09/26/2026