Found: 49
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Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 25, doi. 10.3390/ijns9020025
- By:
- Publication type:
- Article
Successful parathyroidectomy with intra-operative parathyroid hormone monitoring in a neonate with severe primary hyperparathyroidism caused by homozygous mutation in CASR gene.
- Published in:
- 2020
- By:
- Publication type:
- case study
Growth charts for Thai children with Prader-Willi syndrome aged 0-18 years.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0878-8
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- Publication type:
- Article
Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults.
- Published in:
- Immunogenetics, 2010, v. 62, n. 6, p. 345, doi. 10.1007/s00251-010-0439-y
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- Publication type:
- Article
Two infants with abetalipoproteinemia: Classic versus atypical presentation.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 3, p. 373, doi. 10.1515/jpem-2015-0228
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- Publication type:
- Article
Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC , LAMC2 , ITGB4 and COL7A1.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.847150
- By:
- Publication type:
- Article
Identification of Alpha Thalassemia, RNF213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2022, v. 14, n. 1, p. 1, doi. 10.4084/MJHID.2022.057
- By:
- Publication type:
- Article
Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells.
- Published in:
- Biochemical Genetics, 2012, v. 50, n. 11/12, p. 990, doi. 10.1007/s10528-012-9538-9
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- Publication type:
- Article
Successful haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide in a child with X-linked chronic granulomatous disease: A first report in Asia.
- Published in:
- Asian Pacific Journal of Allergy & Immunology, 2022, v. 40, n. 3, p. 278, doi. 10.12932/ap-290419-0551
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- Publication type:
- Article
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
- Published in:
- Pediatric Cardiology, 2020, v. 41, n. 1, p. 165, doi. 10.1007/s00246-019-02240-x
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- Publication type:
- Article
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
- Published in:
- Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2989, doi. 10.3892/etm.2017.4303
- By:
- Publication type:
- Article
Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.896
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- Publication type:
- Article
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1583, doi. 10.3390/genes12101583
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- Publication type:
- Article
Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial.
- Published in:
- BMC Pregnancy & Childbirth, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12884-023-06170-8
- By:
- Publication type:
- Article
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants.
- Published in:
- BMC Gastroenterology, 2012, v. 12, n. 1, p. 141, doi. 10.1186/1471-230X-12-141
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- Publication type:
- Article
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease.
- Published in:
- 2009
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1006, doi. 10.1007/s10038-006-0052-y
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- Publication type:
- Article
Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency.
- Published in:
- Diseases, 2020, v. 8, n. 1, p. 2, doi. 10.3390/diseases8010002
- By:
- Publication type:
- Article
Etiologies, Prognostic Factors, and Outcomes of Pediatric Acute Liver Failure in Thailand.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2020, v. 23, n. 6, p. 539, doi. 10.5223/pghn.2020.23.6.539
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- Publication type:
- Article
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 3, p. 1, doi. 10.1002/pbc.30149
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- Publication type:
- Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
A common nonsense mutation results in α-actinin-3 deficiency in the general population.
- Published in:
- Nature Genetics, 1999, v. 21, n. 4, p. 353, doi. 10.1038/7675
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- Publication type:
- Article
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 6, p. 4732, doi. 10.3390/ijerph20064732
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- Publication type:
- Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 70, doi. 10.1038/ng.2829
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- Publication type:
- Article
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 821, doi. 10.1007/s10545-012-9543-5
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- Publication type:
- Article
Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 11, p. 2217, doi. 10.1002/ccr3.3080
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- Publication type:
- Article
Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.589784
- By:
- Publication type:
- Article
A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.
- Published in:
- 2022
- By:
- Publication type:
- journal article
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69633-4
- By:
- Publication type:
- Article
A novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63639
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- Publication type:
- Article
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co‐occurrence from Thailand.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1873, doi. 10.1002/ajmg.a.61723
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- Publication type:
- Article
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 766, doi. 10.1002/ajmg.a.38082
- By:
- Publication type:
- Article
A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 901, doi. 10.1002/ajmg.a.35259
- By:
- Publication type:
- Article
A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1487, doi. 10.1002/ajmg.a.33995
- By:
- 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
- By:
- Publication type:
- Article
<italic>p.X654R IDUA</italic> variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS‐7 cells.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 150, doi. 10.1111/ahg.12236
- By:
- Publication type:
- Article
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134782
- By:
- Publication type:
- Article
Clinical utility of low branched-chain amino acid modular diets in patients with isovaleric aciduria and maple syrup urine disease.
- Published in:
- Malaysian Journal of Nutrition, 2021, v. 27, n. 2, p. 349, doi. 10.31246/mjn-2020-0071
- By:
- Publication type:
- Article
Development of food products using fish maw (Pangasius hypophthalmus) and roasted sunflower kernel (Helianthus annuus) for branched-chain organic acidurias patients.
- Published in:
- Malaysian Journal of Nutrition, 2018, v. 24, n. 4, p. 607
- By:
- Publication type:
- Article
Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility.
- Published in:
- Journal of the Medical Association of Thailand, 2022, v. 105, n. 1, p. 46, doi. 10.35755/jmedassocthai.2022.01.13232
- By:
- Publication type:
- Article
Clinicoradiological and Genetic Analyses of Three Thai Families with Hereditary Hemorrhagic Telangiectasia in Ramathibodi Hospital.
- Published in:
- Journal of the Medical Association of Thailand, 2018, v. 101, n. 8, p. 1015
- By:
- Publication type:
- Article
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article