Xiaole L. Li

7 Kangfu Qian Street
Zhengzhou, 450052, China

Last Updated: 09/26/2026

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Found 19 publications

Analysis of influencing factors and construction of a predictive model for permanent congenital hypothyroidism in neonates with congenital hypothyroidism

Analysis of influencing factors and construction of a predictive model for permanent congenital hypothyroidism in neonates with congenital hypothyroidism

Journal: Zhonghua yi xue za zhi

Published: May 20, 2026

Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province

Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 05, 2025

Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China.

Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 26, 2022

Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency

Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 10, 2022

Allelic phenotype prediction of phenylketonuria based on the machine learning method.

Allelic phenotype prediction of phenylketonuria based on the machine learning method.

Journal: Human genomics

Published: July 09, 2022

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Journal: Endocrine

Published: April 27, 2022

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Journal: Human genomics

Published: March 28, 2022

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.

Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 02, 2021

Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism.

Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism.

Journal: Gene

Published: October 14, 2021

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 17, 2020

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

Journal: Orphanet journal of rare diseases

Published: December 11, 2020

Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening

Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 09, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026