ORIGINAL RESEARCH
Published on 22 May 2025
Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study
doi 10.3389/fgene.2025.1541333
- 319 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Insights in Genetics of Common and Rare Diseases 2024
Insights in Genetics of Common and Rare Diseases 2024
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Articles
ORIGINAL RESEARCH
Accepted on 20 May 2025
A non-invasive method for screening mitochondrial diabetes
doi 10.3389/fgene.2025.1536331
ORIGINAL RESEARCH
Published on 08 May 2025
Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring
doi 10.3389/fgene.2025.1550937
- 492 views
ORIGINAL RESEARCH
Accepted on 06 May 2025
A Comprehensive Splicing Characterization of COL4A5 Mutations and Prognostic Significance in a Single Cohort with X-linked Alport Syndrome
doi 10.3389/fgene.2025.1564343
ORIGINAL RESEARCH
Published on 25 Mar 2025
Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus
doi 10.3389/fgene.2025.1497915
- 719 views
ORIGINAL RESEARCH
Published on 20 Mar 2025
Identified five variants in CFTR gene that alter RNA splicing by minigene assay
doi 10.3389/fgene.2025.1543623
- 920 views
MINI REVIEW
Published on 19 Mar 2025
Congenital heart disease presentations in the 15q11.2 microdeletion syndrome
doi 10.3389/fgene.2025.1535732
- 932 views
SYSTEMATIC REVIEW
Published on 20 Feb 2025
Comprehensive systematic review and meta-analysis of the TGF-β1 T869C gene polymorphism and autoimmune disease susceptibility
doi 10.3389/fgene.2025.1502921
- 799 views
ORIGINAL RESEARCH
Published on 27 Jan 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome
doi 10.3389/fgene.2025.1475054
- 633 views
ORIGINAL RESEARCH
Published on 20 Jan 2025
Mutation in the COL2A1 gene is associated with acetabular dysplasia
doi 10.3389/fgene.2024.1521412
- 824 views
BRIEF RESEARCH REPORT
Published on 17 Jan 2025
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
doi 10.3389/fgene.2024.1506656
- 1,216 views
- 2 citations
ORIGINAL RESEARCH
Published on 07 Jan 2025
Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome
doi 10.3389/fped.2024.1504122
- 550 views
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Frontiers in Genetics
Genetics of Common and Rare Diseases
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