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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920

2016

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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

Scientific reports, 2023-02, Vol.13 (1), p.3328-3328, Article 3328

2023

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A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

Scientific reports, 2022-09, Vol.12 (1), p.15420-15420, Article 15420

2022

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A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2

Journal of advanced research, 2020-01, Vol.21, p.121-127

2020

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A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

Genetics and molecular biology, 2017-10, Vol.40 (4), p.763-767

2017

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A common and two novel GBA mutations in Thai patients with Gaucher disease

Journal of human genetics, 2013-09, Vol.58 (9), p.594-599

2013

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Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis

Pediatrics international, 2013-10, Vol.55 (5), p.651-655

2013

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Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2124-2130

2012

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Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population

Epilepsia (Copenhagen), 2008-12, Vol.49 (12), p.2087-2091

2008

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Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2022-06, Vol.107 (7), p.1939-1947

2022

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PTPRF is disrupted in a patient with syndromic amastia

BMC medical genetics, 2011-03, Vol.12 (1), p.46-46, Article 46

2011

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Novel Variants and Phenotypes in NEUROG3-Associated Syndrome

The journal of clinical endocrinology and metabolism, 2023-01, Vol.108 (1), p.52-58

2023

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PDGFRa mutations in humans with isolated cleft palate

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1058-1062

2012

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Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

Movement disorders, 2024-01, Vol.39 (1), p.164-172

2024

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PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

Japanese journal of clinical oncology, 2006-12, Vol.36 (12), p.814-821

2006

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Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I

Journal of medical genetics, 2014-12, Vol.51 (12), p.817-823

2014

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Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

Human genetics, 2013-12, Vol.132 (12), p.1383-1393

2013

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Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia

Journal of acquired immune deficiency syndromes (1999), 2015-05, Vol.69 (1), p.e36

2015

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Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

Asian biomedicine, 2017-01, Vol.9 (2), p.211-215

2017

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Novel CTSK mutation resulting in an entire exon 2 skipping in a T hai girl with pycnodysostosis

Pediatrics international, 2013-10, Vol.55 (5), p.651-655

2013

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DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation

Journal of rheumatology, 2013-08, Vol.40 (8), p.1316

2013

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p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease

Genetic testing and molecular biomarkers, 2010-12, Vol.14 (6), p.835

2010

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Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B 1502 allele in Thai population

Epilepsia (Copenhagen), 2008, Vol.49 (12), p.2087-2091

2008

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ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs

International journal of molecular medicine, 2004-10, Vol.14 (4), p.683

2004

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Clinical and molecular characteristics of Thai families with X-linked chronic granulomatous disease

The World Allergy Organization journal, 2007-11, p.S110-S111

2007

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

A common and two novel GBA mutations in Thai patients with Gaucher disease

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency

PTPRF is disrupted in a patient with syndromic amastia

Novel Variants and Phenotypes in NEUROG3-Associated Syndrome

PDGFRa mutations in humans with isolated cleft palate

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia

Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

Novel CTSK mutation resulting in an entire exon 2 skipping in a T hai girl with pycnodysostosis

DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B 1502 allele in Thai population

ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs

Clinical and molecular characteristics of Thai families with X-linked chronic granulomatous disease

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