L. Han

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

Yuduo Wu, Siyu Wang, Yihua He, 2021, Molecular genetics & genomic medicine.

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency

Xuefan Gu, T. Wang, X. Gao, 2009, Journal of Inherited Metabolic Disease.

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report

X. Gao, X. Gu, L. Han, 2007, Journal of Inherited Metabolic Disease.

Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases

J. Chen, Yehui Zhang, Jing Chen, 2019, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].

L. Liang, X. Gu, Y. Yu, 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening].

X. Gu, Z. Gong, Y. Yu, 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease

H. Zhang, W. Qiu, X. Zhan, 2018, Clinical genetics.

[Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].

L. Liang, X. Gu, Z. Gong, 2016, Zhonghua er ke za zhi = Chinese journal of pediatrics.