Case Report
Published on 15 Jan 2025
Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1478581
- 819 views
Type at least 3 characters
1,825 articles
Original Research
Published on 15 Jan 2025
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
- 1,014 views
Clinical Trial
Published on 13 Jan 2025
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
- 842 views
Original Research
Published on 08 Jan 2025
Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1452498
- 625 views
Case Report
Published on 07 Jan 2025
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
- 636 views
Original Research
Published on 06 Jan 2025
An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1500167
- 745 views
Review
Published on 06 Jan 2025
Marfan syndrome: insights from animal models
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1463318
- 1,477 views
Case Report
Published on 03 Jan 2025
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1439905
- 3,983 views
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
- 918 views
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
- 960 views
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
- 903 views
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
- 1,148 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
- 722 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
- 1,218 views
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
- 947 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
- 649 views