Bingjuan Han

No.2, Jianguo Xiao Jing San Road
Jinan, 250001, China

Last Updated: 09/26/2026

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Found 12 publications

Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report.

Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report.

Journal: Frontiers in genetics

Published: August 14, 2025

Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.

Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome.

Journal: Pharmacogenomics and personalized medicine

Published: April 25, 2023

A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene.

A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene.

Journal: Pharmacogenomics and personalized medicine

Published: May 18, 2021

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

Journal: BMC pediatrics

Published: January 31, 2020

The first study of successful pregnancies in Chinese patients with Phenylketonuria.

The first study of successful pregnancies in Chinese patients with Phenylketonuria.

Journal: BMC pregnancy and childbirth

Published: July 07, 2019

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.

Journal: Pediatrics and neonatology

Published: February 26, 2019

Correlation study of cough variant asthma and mycoplasma pneumonia infection in children.

Correlation study of cough variant asthma and mycoplasma pneumonia infection in children.

Journal: Pakistan journal of pharmaceutical sciences

Published: July 04, 2017

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.

Journal: Pediatrics and neonatology

Published: September 18, 2016

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.

Journal: Journal of inherited metabolic disease

Published: July 12, 2016

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Journal: Brain & development

Published: August 02, 2015

A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

Journal: International journal of clinical and experimental pathology

Published: July 09, 2015

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.

Journal: Brain & development

Published: July 16, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026