Clinical Trial
Accepted on 24 Dec 2024
Genetic variation in patent foramen ovale: a case-control genome-wide association study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1523304
Type at least 3 characters
1,779 articles
Articles
Case Report
Published on 23 Dec 2024
Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1453195
- 146 views
Original Research
Accepted on 20 Dec 2024
Mutation in the COL2A1 gene is associated with acetabular dysplasia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1521412
Original Research
Accepted on 19 Dec 2024
Increased cardiac macrophages in Sorbs2-deficient hearts: revealing a potential role for macrophage in responding to embryonic myocardial abnormalities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1525931
Original Research
Published on 18 Dec 2024
Identification of hub programmed cell death-related genes and immune infiltration in Crohn’s disease using bioinformatics
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1425062
- 290 views
Case Report
Accepted on 16 Dec 2024
Case Report: Craniofacial Deafness Hand Syndrome with unusual cardiovascular symptoms and lack of holistic care
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1354632
Brief Research Report
Published on 16 Dec 2024
Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1435734
- 310 views
Brief Research Report
Accepted on 13 Dec 2024
Updates on the Molecular Spectrum of MEFV Variants in Lebanese Patients with Familial Mediterranean Fever (FMF)
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1506656
- 140 views
Review
Accepted on 13 Dec 2024
Marfan Syndrome: Insights from Animal Models
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1463318
Original Research
Published on 13 Dec 2024
Systemic inflammatory regulators and age-related macular degeneration: a bidirectional Mendelian randomization study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1391999
- 258 views
Original Research
Published on 13 Dec 2024
Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1465521
- 329 views
Systematic Review
Published on 12 Dec 2024
Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1488425
- 351 views
Original Research
Accepted on 11 Dec 2024
Diagnostic Efficiency of Exome-Based Sequencing in Pediatric Patients with Epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1496411
Review
Published on 11 Dec 2024
Pathogenesis and management of TRPV3-related Olmsted syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1459109
- 319 views
Original Research
Published on 11 Dec 2024
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1511304
- 260 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
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1503048
- 297 views