Haixia Miao
Hangzhou, 310051, China
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Novel and Known DHX37 Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum.
Journal: Genes
Published: May 28, 2026
De Novo Heterozygous KDM3B Variants Expand the Mutational Spectrum of Diets-Jongmans Syndrome: Case Series and Literature Review.
Journal: Genes
Published: February 11, 2026
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS.
Journal: European journal of medical genetics
Published: November 19, 2023
Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 29, 2023
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Journal: Human mutation
Published: January 25, 2023
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 08, 2022
Dynamic changes of metabolic characteristics in neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal: Frontiers in molecular biosciences
Published: May 09, 2022
Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 24, 2022
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Journal: Frontiers in genetics
Published: November 28, 2021
Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 27, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026