Found: 33
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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
A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia.
- Published in:
- 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.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59990-9
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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.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50211-3
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- Publication type:
- Article
Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47014-x
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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.
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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.
- Published in:
- 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.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1939, doi. 10.1210/clinem/dgac187
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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
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
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
TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.
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- 2019
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- Publication type:
- journal 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
Cole‐Carpenter syndrome in a patient from Thailand.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1706, doi. 10.1002/ajmg.a.40358
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- Publication type:
- 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
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
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
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
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
- Published in:
- Pediatric Allergy & Immunology, 2016, v. 27, n. 2, p. 214, doi. 10.1111/pai.12485
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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
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
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
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
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
A common and two novel GBA mutations in Thai patients with Gaucher disease.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 594, doi. 10.1038/jhg.2013.60
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- Publication type:
- Article
PDGFRa mutations in humans with isolated cleft palate.
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- 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
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