Found: 69
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Novel PLEC variants associated with infantile cholestasis.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 769, doi. 10.1111/cge.14611
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- Publication type:
- Article
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand.
- Published in:
- Emerging Infectious Diseases, 2022, v. 28, n. 11, p. 2350, doi. 10.3201/eid2811.220914
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- Publication type:
- Article
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
- Published in:
- 2019
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- Publication type:
- journal article
Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 12, p. 2087, doi. 10.1111/j.1528-1167.2008.01719.x
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- Publication type:
- Article
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007817
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- Publication type:
- Article
Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.
- Published in:
- Clinical Oral Investigations, 2019, v. 23, n. 1, p. 303, doi. 10.1007/s00784-018-2437-7
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- Publication type:
- Article
Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.
- Published in:
- Pediatrics International, 2013, v. 55, n. 5, p. 651, doi. 10.1111/ped.12091
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- Publication type:
- Article
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-28405-6
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- Publication type:
- Article
Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-26291-y
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- Publication type:
- Article
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19334-x
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- Publication type:
- Article
ZRS 406A>G mutation in patients with tibial hypoplasia, Polydactyly and triphalangeal first fingers.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 467, doi. 10.1038/jhg.2014.50
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- Publication type:
- Article
A common and two novel GBA mutations in Thai patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 594, doi. 10.1038/jhg.2013.60
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- Publication type:
- Article
Risk factors for autism spectrum disorder in the Thai population.
- Published in:
- 2015
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- Publication type:
- journal article
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2747, doi. 10.1002/ajmg.a.38370
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- Publication type:
- Article
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2124, doi. 10.1002/ajmg.a.35495
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- Publication type:
- Article
Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 3, p. 578, doi. 10.1111/bjh.15559
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- Publication type:
- Article
Germline and Somatic DICER1 Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease.
- Published in:
- 2014
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- Publication type:
- Journal Article
The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0639-0
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- Publication type:
- Article
Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0464-x
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- Publication type:
- Article
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
- Published in:
- 2017
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- Publication type:
- Case Study
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
- Published in:
- 2016
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- Publication type:
- Case Study
Genotype–phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.
- Published in:
- Molecular Genetics & Genomics, 2019, v. 294, n. 3, p. 773, doi. 10.1007/s00438-019-01547-x
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- Publication type:
- Article
A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.
- Published in:
- Dermatology (10188665), 2015, v. 231, n. 1, p. 77, doi. 10.1159/000382122
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- Publication type:
- Article
Expanding Phenotypic Spectrum of Familial Comedones.
- Published in:
- Dermatology (10188665), 2014, v. 228, n. 3, p. 215, doi. 10.1159/000358170
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- Publication type:
- Article
Expanding phenotypic spectrum of familial comedones.
- Published in:
- 2014
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- Publication type:
- Journal Article
Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100191
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- Publication type:
- Article
In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides.
- Published in:
- Archivum Immunologiae & Therapiae Experimentalis, 2014, v. 62, n. 5, p. 431, doi. 10.1007/s00005-014-0283-0
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- Publication type:
- Article
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 171, doi. 10.1210/js.2018-00270
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- Publication type:
- Article
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the <i>UPF3B</i> gene.
- Published in:
- Human Genetics, 2013, v. 132, n. 12, p. 1383, doi. 10.1007/s00439-013-1345-9
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- Publication type:
- Article
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00614
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- Publication type:
- Article
Association of IKZF1 SNPs in cold medicine-related Stevens–Johnson syndrome in Thailand.
- Published in:
- 2019
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- Publication type:
- Letter
A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 225, doi. 10.1038/ejhg.2012.133
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- Publication type:
- Article
PDGFRa mutations in humans with isolated cleft palate.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1058, doi. 10.1038/ejhg.2012.55
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- Publication type:
- Article
Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 1, p. 19, doi. 10.1515/jpem-2016-0048
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- Publication type:
- Article
Prevention of bone loss in children receiving long-term glucocorticoids with calcium and alfacalcidol or menatetrenone.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 3/4, p. 307, doi. 10.1515/jpem-2011-0441
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- Publication type:
- Article
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Generation and characterization of HLA-universal platelets derived from induced pluripotent stem cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65577-x
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- Publication type:
- Article
Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
- Published in:
- Clinical & Molecular Hepatology, 2019, v. 25, n. 4, p. 412, doi. 10.3350/cmh.2018.0114
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- Publication type:
- Article
Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.
- Published in:
- Journal of Nutrition & Metabolism, 2018, p. 1, doi. 10.1155/2018/5124035
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- Publication type:
- Article
Novel mutations in Thai patients with glanzmann thrombasthenia.
- Published in:
- European Journal of Haematology, 2017, v. 99, n. 6, p. 520, doi. 10.1111/ejh.12965
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- Publication type:
- Article
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
- Published in:
- 2021
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- Publication type:
- journal article
Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.
- Published in:
- Nephron, 2021, v. 145, n. 3, p. 311, doi. 10.1159/000514293
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- Publication type:
- Article
Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13701
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- Publication type:
- Article
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 11920, doi. 10.1038/ncomms11920
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- Publication type:
- Article
PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping.
- Published in:
- Japanese Journal of Clinical Oncology, 2006, v. 36, n. 12, p. 814, doi. 10.1093/jjco/hyl107
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- Publication type:
- Article
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 242, doi. 10.1111/cge.14172
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- Publication type:
- Article
The Thai reference exome (T‐REx) variant database.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 703, doi. 10.1111/cge.14060
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- Publication type:
- Article
Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 100, doi. 10.1111/cge.13963
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- Publication type:
- Article
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
- Published in:
- 2020
- By:
- Publication type:
- Letter
A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 196, doi. 10.1159/000501169
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- Publication type:
- Article