Found: 8
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Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1278, doi. 10.1093/brain/awad383
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- Publication type:
- Article
Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results.
- Published in:
- Clinical & Experimental Medicine, 2023, v. 23, n. 6, p. 2663, doi. 10.1007/s10238-023-01011-6
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- Publication type:
- Article
Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene.
- Published in:
- 2024
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- Publication type:
- Case Study
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3100, doi. 10.1002/ajmg.a.62898
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- Publication type:
- Article
Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles.
- Published in:
- 2022
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- Publication type:
- journal article
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01128-5
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- Publication type:
- Article
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8849348
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- Publication type:
- Article
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1553, doi. 10.3390/genes14081553
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- Publication type:
- Article