Meng-ju M. Tsai
TPQ, Taiwan
Last Updated: 09/26/2026
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Found 12 publications
Iron matters: a treatable modifier in autosomal dominant hypophosphatemic rickets: lessons for the clinical nephrologist.
Journal: Journal of nephrology
Published: November 09, 2025
Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing.
Journal: Human molecular genetics
Published: October 07, 2025
Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.
Journal: Molecular genetics & genomic medicine
Published: October 03, 2025
Monitoring strategy and efficacy of GnRH analogue therapy in girls with central precocious puberty and early puberty.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi
Published: June 23, 2025
Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia.
Journal: Frontiers in genetics
Published: September 15, 2024
Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis.
Journal: Clinical and experimental pediatrics
Published: July 28, 2024
Effective bone healing after corrective osteotomy in a patient with FGF23-related hypophosphatemic disease using short-term burosumab treatment.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi
Published: January 15, 2024
Curated incidence of lysosomal storage diseases from the Taiwan Biobank.
Journal: NPJ genomic medicine
Published: May 13, 2023
Precocious puberty in patients with Pompe disease.
Journal: Frontiers in endocrinology
Published: January 25, 2023
Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi
Published: May 31, 2022
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Journal: NPJ genomic medicine
Published: May 10, 2022
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi
Published: July 26, 2021
Showing 1-12 of 12
Last Updated: 09/26/2026