Editorial
Published on 12 Oct 2022
Editorial: Genetics of familial hypercholesterolemia: New insight—Volume II
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1041342
- 1,801 views
Type at least 3 characters
1,763 articles
Articles
Original Research
Published on 11 Oct 2022
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.952467
- 5,444 views
- 4 citations
Case Report
Published on 10 Oct 2022
Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.999442
- 2,679 views
- 3 citations
Original Research
Published on 10 Oct 2022
The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.933416
- 2,765 views
- 8 citations
Original Research
Published on 07 Oct 2022
Investigation of the biomarkers involved in ectopic ossification: The shared mechanism in ossification of the spinal ligament
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.991834
- 3,404 views
- 3 citations
Review
Published on 07 Oct 2022
Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.987867
- 4,712 views
- 3 citations
Original Research
Published on 07 Oct 2022
Intergenomic and epistatic interactions control free radical mediated pancreatic β-cell damage
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.994501
- 1,875 views
Case Report
Published on 07 Oct 2022
Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.978688
- 2,661 views
- 2 citations
Systematic Review
Published on 06 Oct 2022
Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.978684
- 2,318 views
- 7 citations
Original Research
Published on 06 Oct 2022
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1007046
- 3,499 views
- 8 citations
Review
Published on 06 Oct 2022
Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.951185
- 14,260 views
- 30 citations
Systematic Review
Published on 06 Oct 2022
Association between CILP and IL-1α polymorphisms and phenotype-dependent intervertebral disc degeneration susceptibility: A meta-analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1005393
- 1,737 views
- 1 citation
Original Research
Published on 05 Oct 2022
Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1011833
- 2,622 views
- 2 citations
Original Research
Published on 05 Oct 2022
Effect of ribose-glycated BSA on histone demethylation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.957937
- 2,571 views
- 1 citation
Original Research
Published on 05 Oct 2022
Benchmarking post-GWAS analysis tools in major depression: Challenges and implications
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1006903
- 3,777 views
- 3 citations
Original Research
Published on 04 Oct 2022
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1019208
- 2,156 views
- 1 citation