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De novo genome assembly and transcriptome sequencing in foot and mantle tissues of Megaustenia siamensis reveals components of adhesive substances.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64425-6
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- Publication type:
- Article
Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63557
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- Publication type:
- Article
In‐depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.
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- International Endodontic Journal, 2024, v. 57, n. 6, p. 745, doi. 10.1111/iej.14056
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- Publication type:
- Article
A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia.
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- Scientific Reports, 2024, p. 1, doi. 10.1038/s41598-024-62764-y
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- Publication type:
- Article
Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59990-9
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- Article
Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.
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- Oral Diseases, 2024, v. 30, n. 2, p. 537, doi. 10.1111/odi.14510
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- Publication type:
- Article
Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52691-3
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- Publication type:
- Article
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-023-01771-w
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- Publication type:
- Article
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
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- Movement Disorders, 2024, v. 39, n. 1, p. 164, doi. 10.1002/mds.29654
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- Publication type:
- Article
HLA-B*46:01:01:01 and HLA-DRB1*09:01:02:01 are associated with anti-rHuEPO-induced pure red cell aplasia.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50211-3
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- Article
Dental characteristics of patients with four different types of skeletal dysplasias.
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- Clinical Oral Investigations, 2023, v. 27, n. 10, p. 5827, doi. 10.1007/s00784-023-05194-w
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- Article
Functional consequences of C-terminal mutations in RUNX2.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39293-1
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- Publication type:
- Article
Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature.
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- BDJ Open, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41405-023-00142-y
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- Publication type:
- Article
PTEN regulates proliferation and osteogenesis of dental pulp cells and adipogenesis of human adipose‑derived stem cells.
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- Oral Diseases, 2023, v. 29, n. 2, p. 735, doi. 10.1111/odi.14030
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- Publication type:
- Article
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29924-y
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- Publication type:
- Article
Novel CNNM4 variant and clinical features of Jalili syndrome.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 256, doi. 10.1111/cge.14258
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- Publication type:
- Article
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
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- 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.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-26291-y
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- Publication type:
- Article
Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 1, p. 52, doi. 10.1210/clinem/dgac554
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- Publication type:
- Article
Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12867-1
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- Publication type:
- Article
TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand.
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- Emerging Infectious Diseases, 2022, v. 28, n. 11, p. 2350, doi. 10.3201/eid2811.220914
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- Publication type:
- Article
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.
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- Scientific Reports, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41598-022-19334-x
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- Publication type:
- Article
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 242, doi. 10.1111/cge.14172
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- Publication type:
- Article
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1939, doi. 10.1210/clinem/dgac187
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- Article
Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.887121
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- Publication type:
- Article
Comparative transcriptome profiles of human dental pulp stem cells from maxillary and mandibular teeth.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12867-1
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- Publication type:
- Article
Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9.
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- European Journal of Oral Sciences, 2022, v. 130, n. 2, p. 1, doi. 10.1111/eos.12855
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- Publication type:
- Article
Age‐related dental phenotypes and tooth characteristics of FAM83H‐associated hypocalcified amelogenesis imperfecta.
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- Oral Diseases, 2022, v. 28, n. 3, p. 734, doi. 10.1111/odi.13780
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- Publication type:
- Article
Multifaceted roles of YEATS domain-containing proteins and novel links to neurological diseases.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04218-0
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- Publication type:
- Article
Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.
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- PLoS ONE, 2022, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0263621
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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.
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- Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13701
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- Article
The Thai reference exome (T‐REx) variant database.
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- Clinical Genetics, 2021, v. 100, n. 6, p. 703, doi. 10.1111/cge.14060
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- Publication type:
- Article
Reduced ELANE and SLPI expression compromises dental pulp cell activity.
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- Cell Proliferation, 2021, v. 54, n. 11, p. 1, doi. 10.1111/cpr.13132
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- Publication type:
- Article
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3068, doi. 10.1002/ajmg.a.62365
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- Publication type:
- Article
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
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- British Journal of Haematology, 2021, v. 194, n. 3, p. 626, doi. 10.1111/bjh.17616
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- Article
Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
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- Clinical Genetics, 2021, v. 100, n. 1, p. 100, doi. 10.1111/cge.13963
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- Publication type:
- Article
Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
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- Oral Diseases, 2021, v. 27, n. 5, p. 1257, doi. 10.1111/odi.13657
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- Publication type:
- Article
MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
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- 2021
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- Publication type:
- journal article
Prenatal Sonographic Features of CHARGE Syndrome.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 3, p. 415, doi. 10.3390/diagnostics11030415
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- Publication type:
- Article
Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.
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- Nephron, 2021, v. 145, n. 3, p. 311, doi. 10.1159/000514293
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- Publication type:
- Article
Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.573214
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- Publication type:
- Article
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
- Published in:
- Case Reports in Dermatology, 2020, v. 12, n. 3, p. 241, doi. 10.1159/000509535
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- Publication type:
- Article
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
- Published in:
- Molecular Genetics & Genomics, 2020, v. 295, n. 4, p. 923, doi. 10.1007/s00438-020-01668-8
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- Publication type:
- 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
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
- Published in:
- 2020
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- Publication type:
- Letter
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
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
Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.
- Published in:
- 2019
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- Publication type:
- case study
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
Precision medicine in Thailand.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 245, doi. 10.1002/ajmg.c.31694
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- Article