Mini Review
Published on 26 Jul 2022
Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.938183
- 4,141 views
- 6 citations
Type at least 3 characters
1,598 articles
Articles
Original Research
Published on 25 Jul 2022
Identification of novel biomarkers in septic cardiomyopathy via integrated bioinformatics analysis and experimental validation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.929293
- 3,284 views
- 2 citations
Original Research
Published on 25 Jul 2022
Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.845081
- 1,601 views
Brief Research Report
Published on 22 Jul 2022
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.887698
- 932 views
- 1 citation
Original Research
Published on 22 Jul 2022
Analysis of characteristic genes and ceRNA regulation mechanism of endometriosis based on full transcriptional sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.902329
- 2,759 views
- 6 citations
Original Research
Published on 22 Jul 2022
Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.928874
- 914,382 views
- 9 citations
Case Report
Published on 22 Jul 2022
Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.938639
- 1,537 views
- 2 citations
Case Report
Published on 22 Jul 2022
Case Report: Immune Microenvironment and Mutation Features in a Patient With Epstein–Barr Virus Positive Large B-Cell Lymphoma Secondary to Angioimmunoblastic T-Cell Lymphoma
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.940513
- 1,844 views
- 2 citations
Original Research
Published on 19 Jul 2022
Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.836853
- 1,711 views
- 3 citations
Original Research
Published on 19 Jul 2022
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.936131
- 1,786 views
Original Research
Published on 18 Jul 2022
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.934395
- 2,806 views
- 3 citations
Case Report
Published on 18 Jul 2022
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.914141
- 1,721 views
Original Research
Published on 18 Jul 2022
Comprehensive comparative analysis of histopathology and gene expression in subchondral bone between kashin-beck disease and primary osteoarthritis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.942326
- 1,324 views
- 1 citation
Case Report
Published on 15 Jul 2022
Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.924362
- 1,710 views
- 1 citation
Original Research
Published on 15 Jul 2022
Global, Regional, and National Burden and Trends of Down Syndrome From 1990 to 2019
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.908482
- 21,671 views
- 8 citations
Original Research
Published on 15 Jul 2022
The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.927504
- 2,884 views