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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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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

PloS one, 2019-11, Vol.14 (11), p.e0225457-e0225457

2019

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

PloS one, 2022-09, Vol.17 (9), p.e0267770-e0267770

2022

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Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

Dermatology and therapy, 2024-02, Vol.14 (2), p.545-556

2024

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Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis

International journal of hematology, 2017-08, Vol.106 (2), p.282-290

2017

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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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A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population

Journal of orthopaedic surgery and research, 2011-09, Vol.6 (1), p.47-47

2011

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

Case reports in endocrinology, 2014-01, Vol.2014, p.680876-7

2014

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Amelioration of osteogenesis in iPSC-derived mesenchymal stem cells from osteogenesis imperfecta patients by endoplasmic reticulum stress inhibitor

Life sciences (1973), 2021-08, Vol.278, p.119628-119628, Article 119628

2021

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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, p.802793-4

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

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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First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration

Journal of assisted reproduction and genetics, 2017-01, Vol.34 (1), p.109-116

2017

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

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

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

Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis

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

A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population

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

Amelioration of osteogenesis in iPSC-derived mesenchymal stem cells from osteogenesis imperfecta patients by endoplasmic reticulum stress inhibitor

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

First successful trial of preimplantation genetic diagnosis for 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

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