Found: 13
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Machine learning-based diagnosis for disseminated intravascular coagulation (DIC): Development, external validation, and comparison to scoring systems.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0195861
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- Article
Automated CH50 liposome-based immunoassay: consideration in dilution and validation of reference interval.
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- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 10, p. e309, doi. 10.1515/cclm-2015-1171
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- Article
The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant.
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- Annals of Laboratory Medicine, 2023, v. 43, n. 2, p. 217, doi. 10.3343/alm.2023.43.2.217
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- Article
Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype–phenotype relationship in RASopathies.
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- Clinical Genetics, 2024, v. 106, n. 2, p. 199, doi. 10.1111/cge.14539
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- Article
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.990015
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- Article
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.
- Published in:
- Experimental & Molecular Medicine EMM, 2024, v. 56, n. 3, p. 570, doi. 10.1038/s12276-024-01172-8
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- Article
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases.
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- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad233
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- Article
Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea.
- Published in:
- Annals of Child Neurology, 2024, v. 32, n. 3, p. 167, doi. 10.26815/acn.2024.00472
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- Article
Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1218706
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- Article
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia.
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- Movement Disorders, 2023, v. 38, n. 2, p. 354, doi. 10.1002/mds.29275
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- Article
Broadening the scope of multigene panel analysis for adult epilepsy patients.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 4, p. 1538, doi. 10.1002/epi4.12993
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- Article
Multi‐locus pathogenic variation identified in a patient with craniosynostosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63521
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- Article
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
- Published in:
- Clinical & Experimental Pediatrics, 2024, v. 67, n. 1, p. 54, doi. 10.3345/cep.2023.01095
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- Article