Qianwen Zhang

1678 Dongfang Road
Dongfang, 200127, China

Last Updated: 09/26/2026

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Found 34 publications

Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study.

Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study.

Journal: Genes

Published: May 20, 2026

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

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models.

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models.

Journal: BMC pediatrics

Published: May 27, 2025

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

Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.

Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 17, 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

Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Journal: BMC pediatrics

Published: February 01, 2025

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Journal: BMC pediatrics

Published: September 27, 2024

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.

Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.

Journal: International journal of molecular sciences

Published: June 30, 2024

S-nitrosylation may inhibit the activity of COP1 in plant photomorphogenesis.

S-nitrosylation may inhibit the activity of COP1 in plant photomorphogenesis.

Journal: Biochemical and biophysical research communications

Published: April 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

Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene.

Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene.

Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Published: December 18, 2023

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Last Updated: 09/26/2026