BRIEF RESEARCH REPORT
Accepted on 12 Feb 2025
Experiences from Dual Genome Next-Generation Sequencing Panel Testing for Mitochondrial Disorders: A Comprehensive Molecular Diagnosis
doi 10.3389/fgene.2025.1488956
- 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
BRIEF RESEARCH REPORT
Accepted on 27 Jan 2025
Calculating Maternal Polygenic Risk Scores from Prenatal Screening by cell-free DNA Data
doi 10.3389/fgene.2025.1495604
ORIGINAL RESEARCH
Published on 13 Jan 2025
Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations
doi 10.3389/fgene.2024.1484651
- 305 views
ORIGINAL RESEARCH
Published on 11 Dec 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
doi 10.3389/fgene.2024.1477940
- 519 views
CASE REPORT
Published on 18 Jun 2024
Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report
doi 10.3389/fgene.2024.1395012
- 1,362 views
- 1 citation
ORIGINAL RESEARCH
Published on 15 Feb 2024
Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families
doi 10.3389/fgene.2024.1343094
- 1,540 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
- 1,159 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
- 732 views
Published in
Frontiers in Genetics
- Human and Medical Genomics
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- 8,411Topic views
- 5,056Article views
- 1,907Article downloads