John S. Dumbuya
Department Of Pediatric Endocrinology And Well Child Care
Guangzhou, China
Guangzhou, China
Last Updated: 09/26/2026
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Found 18 publications
Case Report: novel mutations in SMARCA4 cause Coffin-Siris syndrome type 4 with autism spectrum disorder without visual impairment in one patient.
Journal: Frontiers in genetics
Published: July 01, 2026
Specialist-mediated play therapy for toddlers with language developmental delay: a single-center observational pilot study.
Journal: Frontiers in rehabilitation sciences
Published: March 15, 2026
Effectiveness of health-related quality of life assessment scales in patients with haemophilia after treatment: Systematic review.
Journal: Thrombosis research
Published: June 29, 2025
Corrigendum to "Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pathway in GFM1 knockout cells" [Int. J. Biol. Macromol. Volume 304, Part 2, April 2025, 140970].
Journal: International journal of biological macromolecules
Published: June 28, 2025
The protective effects of molecular hydrogen in sepsis-associated encephalopathy: current status.
Journal: European journal of pharmacology
Published: April 07, 2025
Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms.
Journal: Mutation research. Reviews in mutation research
Published: February 23, 2025
The impact of rare diseases on the quality of life in paediatric patients: current status.
Journal: Frontiers in public health
Published: November 20, 2024
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Journal: International journal of biological macromolecules
Published: November 05, 2024
A retrospective study of insurance coverage status and economic cost of rare diseases in Hainan Province.
Journal: Scientific reports
Published: November 01, 2024
Assessing the effectiveness of measurement scales in evaluating the health-related quality of life in rare disease patients after treatment: a systematic review.
Journal: Health and quality of life outcomes
Published: October 01, 2024
Anticancer activities of natural abietic acid.
Journal: Frontiers in pharmacology
Published: February 27, 2024
Last Updated: 09/26/2026