Boonchai Boonyawat

Bangkok, Thailand

Last Updated: 09/26/2026

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Found 23 publications

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.

Journal: Case reports in genetics

Published: May 23, 2025

Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.

Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study.

Journal: ClinicoEconomics and outcomes research : CEOR

Published: May 22, 2025

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities.

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities.

Journal: Anemia

Published: November 25, 2024

Pontocerebellar Hypoplasia Type 3 With Two Novel PCLO Gene Mutations: A Case Report.

Pontocerebellar Hypoplasia Type 3 With Two Novel PCLO Gene Mutations: A Case Report.

Journal: Case reports in pediatrics

Published: November 21, 2024

Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy.

Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy.

Journal: Case reports in neurological medicine

Published: April 03, 2024

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.

Journal: Orphanet journal of rare diseases

Published: December 30, 2023

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 08, 2022

Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports.

Three novel homozygous ITGB2 mutations among two patients with leukocyte adhesion defect type-1: Two case reports.

Journal: World journal of clinical pediatrics

Published: April 22, 2022

ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand.

ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand.

Journal: The application of clinical genetics

Published: May 06, 2021

Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.

Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency.

Journal: Anemia

Published: November 01, 2020

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.

Journal: Molecular biology reports

Published: September 25, 2020

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome.

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome.

Journal: Case reports in neurological medicine

Published: June 04, 2019

Showing 1-12 of 23

Last Updated: 09/26/2026