Original Research
Published on 27 Jan 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1475054
- 673 views
Type at least 3 characters
1,830 articles
Original Research
Published on 21 Jan 2025
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
- 1,086 views
Original Research
Published on 20 Jan 2025
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
- 1,103 views
Case Report
Published on 20 Jan 2025
Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1491870
- 777 views
Brief Research Report
Published on 17 Jan 2025
Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1506656
- 1,228 views
- 1 citation
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
- 1,102 views
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
- 930 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
- 928 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
- 666 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
- 712 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
- 1,722 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
- 851 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
- 4,421 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
- 981 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
- 1,037 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
- 1,016 views