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

BMC neurology, 2022-12, Vol.22 (1), p.461-9, Article 461

2022

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Screening of Fabry disease in patients with end-stage renal disease of unknown etiology：the first Thailand study

Journal of biomedical research, 2017-01, Vol.31 (1), p.17-24

2017

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

Case reports in oncology, 2017-08, Vol.10 (2), p.769-776

2017

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Fine-Needle Aspiration Cytology of Parathyroid Carcinoma Mimic Hürthle Cell Thyroid Neoplasm

Case reports in endocrinology, 2014-01, Vol.2014 (2014), p.1-7

2014

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Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features

Case reports in endocrinology, 2013-01, Vol.2013 (2013), p.1-4

2013

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Clinical course over five decades of a woman carrying 16p13.3 microduplication

Clinical dysmorphology, 2017-10, Vol.26 (4), p.217-220

2017

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Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

Journal of human genetics, 2009-05, Vol.54 (5), p.284-288

2009

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Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

Journal of human genetics, 2009-05, Vol.54 (5), p.284-288

2009

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

Journal of clinical neuroscience, 2019-08, Vol.66, p.187-190

2019

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Establishment of Thailand National Fabry Disease Screening Program in High-risk Patients

Molecular genetics and metabolism, 2012-02, Vol.105 (2), p.S61-S61

2012

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

PloS one, 2022-01, Vol.17 (9)

2022

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Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

European journal of medical genetics, 2013-06, Vol.56 (6), p.319-324

2013

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Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.486-493

2019

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

Hematology (Luxembourg), 2017-02, Vol.22 (2), p.114-118

2017

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FIRST IDENTIFICATION OF HEMOGLOBIN LANSING-RAMATHIBODI [[alpha]87(F8)HIS [arrow right] GLN; CAC>CAG (HBA1: c.264C>G)] IN A THAI FAMILY WITH SPURIOUS HYPOXEMIA

Southeast Asian journal of tropical medicine and public health, 2016-09, Vol.47 (5), p.1048

2016

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

Southeast Asian journal of tropical medicine and public health, 2016-09, Vol.47 (5), p.1048-1054

2016

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Angiotensin-converting enzyme gene polymorphism in Thai patients with systemic lupus erythematosus

International journal of rheumatic diseases, 2016-07, Vol.19 (7), p.693-699

2016

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A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.241-245

2016

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AB034. Carrier frequency of inherited genetic disorders in Thai population: implication for designing expanded carrier screening panel

Annals of translational medicine, 2017-09, Vol.5 (S2), p.AB034-AB034

2017

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AB137. Preimplantation genetic diagnosis for rare monogenic disorder: a lesson from pantothenate kinase-associated neurodegeneration

Annals of translational medicine, 2015-09, Vol.3 (Suppl 2)

2015

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AB138. Next-generation sequencing as a tool for molecular diagnosis of hypertrophic and dilated cardiomyopathies in Thai patients

Annals of translational medicine, 2015-09, Vol.3 (Suppl 2)

2015

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Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

European journal of haematology, 2007-09, Vol.79 (3), p.251-254

2007

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Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method

Annals of hematology, 2007-09, Vol.86 (9), p.659-663

2007

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Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G-->A) and Thai patients affected by knee osteoarthritis

Journal of the Medical Association of Thailand, 2009-12, Vol.92 Suppl 6, p.S45-S50

2009

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Ehlers-Danlos syndrome type IV with gastric adenocarcinoma

Journal of the Medical Association of Thailand, 2008, Vol.91 Suppl 1, p.S166-S171

2008

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

Screening of Fabry disease in patients with end-stage renal disease of unknown etiology：the first Thailand study

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

Fine-Needle Aspiration Cytology of Parathyroid Carcinoma Mimic Hürthle Cell Thyroid Neoplasm

Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism : Clues to Diagnosis from Dysmorphic Facial Features

Clinical course over five decades of a woman carrying 16p13.3 microduplication

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

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

Establishment of Thailand National Fabry Disease Screening Program in High-risk Patients

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

Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

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

FIRST IDENTIFICATION OF HEMOGLOBIN LANSING-RAMATHIBODI [[alpha]87(F8)HIS [arrow right] 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

Angiotensin-converting enzyme gene polymorphism in Thai patients with systemic lupus erythematosus

A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

AB034. Carrier frequency of inherited genetic disorders in Thai population: implication for designing expanded carrier screening panel

AB137. Preimplantation genetic diagnosis for rare monogenic disorder: a lesson from pantothenate kinase-associated neurodegeneration

AB138. Next-generation sequencing as a tool for molecular diagnosis of hypertrophic and dilated cardiomyopathies in Thai patients

Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease

Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method

Association of estrogen receptor-alpha single-nucleotide polymorphism (codon 594 G-->A) and Thai patients affected by knee osteoarthritis

Ehlers-Danlos syndrome type IV with gastric adenocarcinoma

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