BRIEF RESEARCH REPORT
Published on 08 Oct 2025
A novel splicing variant in NBAS identified by minigene assay causes infantile liver failure syndrome type 2
doi 10.3389/fgene.2025.1687266
- 903 views
- Frontiers in Genetics
- Applied Genetic Epidemiology
- Research Topics
- Beyond Mutation: Exploring the Molecular Genetics and Pathomechanisms of Mendelian Disorders
Beyond Mutation: Exploring the Molecular Genetics and Pathomechanisms of Mendelian Disorders
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Articles
ORIGINAL RESEARCH
Published on 30 May 2025
Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype–phenotype analysis in a Saudi tertiary center
doi 10.3389/fgene.2025.1584817
- 1,743 views
ORIGINAL RESEARCH
Published on 06 Nov 2024
De novo SCN1A missense variant in a patient with Parkinson’s disease
doi 10.3389/fgene.2024.1496683
- 1,460 views
REVIEW
Published on 13 Mar 2024
Association of glutamate receptor gene polymorphisms with attention-deficit hyperactivity disorder susceptibility: a systematic review and meta-analysis
doi 10.3389/fgene.2024.1348387
- 2,682 views
- 2 citations
ORIGINAL RESEARCH
Published on 29 Jun 2023
A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
doi 10.3389/fgene.2023.1207772
- 2,857 views
- 4 citations
ORIGINAL RESEARCH
Published on 09 Mar 2023
Correction of F8 intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editing
doi 10.3389/fgene.2023.1115831
- 3,232 views
- 9 citations
Published in
Frontiers in Genetics
Applied Genetic Epidemiology
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.0 impact factor
- 4.3 citescore
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