ORIGINAL RESEARCH
Published on 12 Dec 2024
Uncovering somatic mosaic variants of PIK3CA-Related Overgrowth Disorders: Three cases with different clinical presentations
doi 10.3389/fgene.2024.1484651
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Application of Next-Generation Sequencing in Clinical Settings
Application of Next-Generation Sequencing in Clinical Settings
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Articles
ORIGINAL RESEARCH
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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
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CASE REPORT
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ORIGINAL RESEARCH
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Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families
doi 10.3389/fgene.2024.1343094
- 1,485 views
- 1 citation
BRIEF RESEARCH REPORT
Published on 29 Jan 2024
Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
doi 10.3389/fgene.2024.1352006
- 1,069 views
- 1 citation
CASE REPORT
Published on 23 Jan 2024
Case report: Targeted sequencing facilitates the diagnosis and management of rare multifocal pure ground-glass opacities with intrapulmonary metastasis
doi 10.3389/fonc.2023.1276095
- 687 views
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Frontiers in Genetics
- Human and Medical Genomics
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