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
- 237 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
Published on 20 Mar 2025
Identified five variants in CFTR gene that alter RNA splicing by minigene assay
doi 10.3389/fgene.2025.1543623
- 343 views
MINI REVIEW
Published on 19 Mar 2025
Congenital heart disease presentations in the 15q11.2 microdeletion syndrome
doi 10.3389/fgene.2025.1535732
- 401 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
- 493 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
- 428 views
ORIGINAL RESEARCH
Published on 20 Jan 2025
Mutation in the COL2A1 gene is associated with acetabular dysplasia
doi 10.3389/fgene.2024.1521412
- 575 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
- 865 views
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
- 326 views
ORIGINAL RESEARCH
Published on 10 Dec 2024
Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies
doi 10.3389/fgene.2024.1503048
- 639 views
ORIGINAL RESEARCH
Published on 01 Nov 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
doi 10.3389/fgene.2024.1472543
- 1,019 views
ORIGINAL RESEARCH
Published on 01 Nov 2024
Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD
doi 10.3389/fgene.2024.1472516
- 872 views
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Frontiers in Genetics
Genetics of Common and Rare Diseases
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Frontiers in Pediatrics
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- 3.6 citescore
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