Linghua H. Shen
No-33, Longhu Waihuan East Road
Zhengzhou, 450018, China
Zhengzhou, 450018, China
Last Updated: 09/26/2026
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Found 12 publications
Clinical characterization and analysis of the SRD5A2 gene in 16 Chinese patients with 5α-reductase type 2 deficiency: a single-center retrospective study.
Journal: BMC pediatrics
Published: September 11, 2025
Microcephaly-short stature-impaired glucose metabolism syndrome in a pedigree
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: June 29, 2023
Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.
Journal: Frontiers in genetics
Published: November 17, 2021
Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 27, 2021
Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency
Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency
Journal: Zhonghua yi xue za zhi
Published: April 12, 2021
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Journal: Molecular genetics & genomic medicine
Published: March 03, 2021
Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 10, 2021
Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 11, 2020
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Journal: Orphanet journal of rare diseases
Published: May 03, 2020
A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses.
Journal: European journal of medical genetics
Published: January 29, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026