Zhuang-zhuang Yuan
Changsha, China
Last Updated: 09/26/2026
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Found 14 publications
LRRC56 deficiency cause motile ciliopathies in humans and mice.
Journal: Frontiers in genetics
Published: July 02, 2025
The prevalence of laterality defects in patients with congenital heart disease.
Journal: Journal of human genetics
Published: November 23, 2024
RTN3 regulates collagen biosynthesis and profibrotic macrophage differentiation to promote pulmonary fibrosis via interacting with CRTH2.
Journal: Molecular medicine (Cambridge, Mass.)
Published: August 27, 2024
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
Journal: BMC medical genomics
Published: October 03, 2023
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
Journal: Journal of human genetics
Published: January 28, 2022
A novel POF1B variant in a Chinese patient is associated with premature ovarian failure.
Journal: Clinical genetics
Published: June 08, 2021
Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome.
Journal: Frontiers in cardiovascular medicine
Published: May 11, 2021
Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain.
Journal: Frontiers in neuroscience
Published: April 19, 2021
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.
Journal: BioMed research international
Published: December 17, 2020
A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.
Journal: Frontiers in cardiovascular medicine
Published: July 11, 2020
Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity.
Journal: Cellular & molecular immunology
Published: March 15, 2020
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
Journal: Bioscience reports
Published: February 22, 2020
Last Updated: 09/26/2026