Huifen F. Mei
Guangzhou, China
Last Updated: 09/26/2026
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Found 20 publications
Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.
Journal: Translational pediatrics
Published: November 24, 2025
Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.
Journal: Frontiers in psychiatry
Published: October 09, 2025
Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.
Journal: Translational pediatrics
Published: April 03, 2025
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
Journal: Clinical genetics
Published: September 12, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Journal: Orphanet journal of rare diseases
Published: January 11, 2024
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Journal: Pediatric nephrology (Berlin, Germany)
Published: June 23, 2023
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
Journal: Frontiers in genetics
Published: October 31, 2022
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 08, 2022
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study.
Journal: Frontiers in pediatrics
Published: July 30, 2022
Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 27, 2022
Phenotypes and ATP7B gene variants in 316 children with Wilson disease
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: April 07, 2022
Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.
Journal: Diabetology & metabolic syndrome
Published: August 09, 2021
Last Updated: 09/26/2026