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A novel PITX2 mutation in non‐syndromic orodental anomalies

Oral diseases, 2018-05, Vol.24 (4), p.611-618

2018

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NGS for rare diseases

Clinica chimica acta, 2022-05, Vol.530, p.S459-S459

Shotelersuk, V.

2022

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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia

British journal of dermatology (1951), 2019-08, Vol.181 (2), p.419-420

2019

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A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel

Oral diseases, 2017-09, Vol.23 (6), p.795-800

2017

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Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

British journal of dermatology (1951), 2018-09, Vol.179 (3), p.758-760

2018

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Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

Animal genetics, 2021-10, Vol.52 (5), p.714-719

2021

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Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation

Oral diseases, 2018-05, Vol.24 (4), p.619-627

2018

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A mutation of the p63 gene in non-syndromic cleft lip

Journal of medical genetics, 2006-06, Vol.43 (6), p.e28-e28

2006

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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

Clinical genetics, 2008-04, Vol.73 (4), p.373-379

2008

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TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

Clinical genetics, 2007-11, Vol.72 (5), p.478-483

2007

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Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population

Journal of medical genetics, 2005-07, Vol.42 (7), p.e46-e46

2005

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SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

Clinical genetics, 2011-04, Vol.79 (4), p.391-393

2011

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Novel mutations in the FUCA1 gene that cause fucosidosis

Genetics and molecular research, 2016-09, Vol.15 (3)

2016

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Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

JIMD Reports, Volume 41, 2018-01, Vol.41, p.11-16

2018

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Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip

Journal of medical genetics, 2003-05, Vol.40 (5), p.e64-64

2003

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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita

Genetics and molecular research, 2016-01, Vol.15 (1)

2016

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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita

Genetics and molecular research, 2016-03, Vol.15 (1), p.15017624-15017624

2016

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Pyridoxal 5'-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report

Genetics and molecular research, 2015-01, Vol.14 (4), p.14130-14135

2015

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Holocarboxylase synthetase deficiency: novel clinical and molecular findings

Clinical genetics, 2010-07, Vol.78 (1), p.88-93

2010

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Expanding the phenotypic spectrum of Caffey disease

Clinical genetics, 2007-03, Vol.71 (3), p.280-284

2007

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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome

Scandinavian journal of immunology, 2013-01, Vol.77 (1), p.69-74

2013

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Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report

Genetics and molecular research, 2015-10, Vol.14 (4), p.14130-14135

2015

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Pathogenic mechanism of mutations in the thyroid hormone receptor β gene

Journal of endocrinological investigation, 2012-06, Vol.35 (6), p.557-561

2012

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Association of CD247 with systemic lupus erythematosus in Asian populations

Lupus, 2012-01, Vol.21 (1), p.75-83

2012

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Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate

International journal of oral and maxillofacial surgery, 2008-06, Vol.37 (6), p.550-553

2008

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A novel PITX2 mutation in non‐syndromic orodental anomalies

NGS for rare diseases

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

Dental properties, ultrastructure, and pulp cells associated with a novel DSPP mutation

A mutation of the p63 gene in non-syndromic cleft lip

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population

Significant association between IRF6 820G→A and non-syndromic cleft lip with or without cleft palate in the Thai population

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome

Novel mutations in the FUCA1 gene that cause fucosidosis

Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita

Pyridoxal 5'-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report

Holocarboxylase synthetase deficiency: novel clinical and molecular findings

Expanding the phenotypic spectrum of Caffey disease

Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene

Association of CD247 with systemic lupus erythematosus in Asian populations

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate

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