Bhakbhoom Panthan

Bangkok, 10400, Thailand

Last Updated: 09/26/2026

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Found 13 publications

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

Journal: BMC medical genomics

Published: January 09, 2024

Host genetic polymorphisms involved in long-term symptoms of COVID-19.

Host genetic polymorphisms involved in long-term symptoms of COVID-19.

Journal: Emerging microbes & infections

Published: July 27, 2023

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Journal: PloS one

Published: April 13, 2022

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.

Journal: BMC neurology

Published: December 28, 2021

Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Journal: Annals of medicine

Published: July 26, 2021

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.

Journal: Endocrine connections

Published: October 26, 2020

Genomic surveillance of SARS-CoV-2 in Thailand reveals mixed imported populations, a local lineage expansion and a virus with truncated ORF7a.

Genomic surveillance of SARS-CoV-2 in Thailand reveals mixed imported populations, a local lineage expansion and a virus with truncated ORF7a.

Journal: Virus research

Published: June 11, 2020

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.

Journal: PloS one

Published: March 29, 2019

Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.

Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: March 23, 2018

A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.

A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.

Journal: Case reports in oncology

Published: July 19, 2017

Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].

Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].

Journal: Hematology (Amsterdam, Netherlands)

Published: September 28, 2016

FIRST IDENTIFICATION OF HEMOGLOBIN LANSINGRAMATHIBODI [α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] IN A THAI FAMILY WITH SPURIOUS HYPOXEMIA.

FIRST IDENTIFICATION OF HEMOGLOBIN LANSINGRAMATHIBODI [α87(F8)His → Gln; CAC>CAG (HBA1: c.264C>G)] IN A THAI FAMILY WITH SPURIOUS HYPOXEMIA.

Journal: The Southeast Asian journal of tropical medicine and public health

Published: September 01, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026