Case Report
Published on 30 Jul 2024
Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1410381
- 1,229 views
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1,885 articles
Systematic Review
Published on 29 Jul 2024
The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1377716
- 2,204 views
- 3 citations
Original Research
Published on 29 Jul 2024
Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1401549
- 1,991 views
Case Report
Published on 24 Jul 2024
Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1417613
- 1,749 views
- 2 citations
Original Research
Published on 23 Jul 2024
Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1399604
- 1,819 views
Original Research
Published on 22 Jul 2024
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1402531
- 2,570 views
Original Research
Published on 18 Jul 2024
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1419025
- 1,716 views
Original Research
Published on 16 Jul 2024
Identification of the CDH18 gene associated with age-related macular degeneration using weighted gene co-expression network analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1378340
- 2,685 views
Original Research
Published on 15 Jul 2024
Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1417584
- 3,083 views
Case Report
Published on 12 Jul 2024
Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1426806
- 1,749 views
Case Report
Published on 11 Jul 2024
Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1391015
- 1,904 views
Original Research
Published on 10 Jul 2024
Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1308737
- 1,640 views
Original Research
Published on 10 Jul 2024
Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1396797
- 2,330 views
Original Research
Published on 10 Jul 2024
Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1347933
- 2,832 views
- 1 citation
Correction
Published on 10 Jul 2024
Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017–2022
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1449534
- 773 views
Original Research
Published on 10 Jul 2024
Identification of shared genetic risks underlying metabolic syndrome and its related traits in the Korean population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1417262
- 2,039 views
- 5 citations