Found: 14
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Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1984, doi. 10.1002/ajmg.a.63225
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- Article
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2466, doi. 10.1002/ajmg.a.62873
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- Article
Corrigendum to "HECW2‐related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3926, doi. 10.1002/ajmg.a.62414
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- Article
HECW2‐related disorder in four Japanese patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2895, doi. 10.1002/ajmg.a.62363
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- Article
The mutagenic mechanism of oxygenated alkylhydrazones occurs through alkyl radicals and alkyldiazonium ions.
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- Toxicology Research, 2017, v. 6, n. 2, p. 173, doi. 10.1039/c6tx00430j
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- Article
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y
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- Article
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00176-4
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- Article
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00148-8
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- Article
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00277-w
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- Article
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
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- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00262-9
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- Article
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8
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- Article
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00220-x
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- Article
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.
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- Clinical Pediatric Endocrinology, 2023, v. 32, n. 2, p. 105, doi. 10.1297/cpe.2022-0076
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- Article
Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46915-1
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- Article