Case Report
Published on 05 Sep 2022
Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.979377
- 3,331 views
- 6 citations
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1,764 articles
Articles
Original Research
Published on 02 Sep 2022
Molecular subtype identification and predictive power of N6-methyladenosine regulator in unexplained recurrent pregnancy loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.925652
- 2,665 views
- 1 citation
Mini Review
Published on 02 Sep 2022
Roles of AIM2 Gene and AIM2 Inflammasome in the Pathogenesis and Treatment of Psoriasis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.929162
- 5,857 views
- 11 citations
Mini Review
Published on 02 Sep 2022
Paraoxonase 1 gene polymorphisms in lipid oxidation and atherosclerosis development
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.966413
- 3,105 views
- 13 citations
Original Research
Published on 02 Sep 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.967688
- 3,078 views
- 2 citations
Original Research
Published on 02 Sep 2022
Detection of four rare thalassemia variants using Single-molecule realtime sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.974999
- 4,311 views
- 9 citations
Case Report
Published on 02 Sep 2022
Case report: Exotropia in waardenburg syndrome with novel variations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.969680
- 1,544 views
Original Research
Published on 31 Aug 2022
Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.960504
- 2,651 views
- 1 citation
Original Research
Published on 31 Aug 2022
Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.961196
- 4,207 views
- 5 citations
Case Report
Published on 31 Aug 2022
Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.937485
- 2,137 views
Original Research
Published on 30 Aug 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.921324
- 4,139 views
- 2 citations
Original Research
Published on 30 Aug 2022
Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.845016
- 2,031 views
- 3 citations
Original Research
Published on 30 Aug 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.900548
- 6,183 views
- 9 citations
Original Research
Published on 29 Aug 2022
Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.975987
- 4,123 views
- 10 citations
Original Research
Published on 29 Aug 2022
Phenotype-Genotype analysis of caucasian patients with high risk of osteoarthritis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.922658
- 4,752 views
- 1 citation
Original Research
Published on 29 Aug 2022
Identifying novel genetic loci associated with polycystic ovary syndrome based on its shared genetic architecture with type 2 diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.905716
- 3,710 views
- 1 citation