Original Research
Published on 30 May 2025
A non-invasive method for screening mitochondrial diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1536331
- 791 views
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1,879 articles
Original Research
Published on 30 May 2025
Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1588709
- 642 views
Case Report
Accepted on 29 May 2025
A Family Report of Hereditary Pancreatitis Caused by SPINK1 and PRSS1 Gene Mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1610108
- 203 views
Case Report
Published on 26 May 2025
Case Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1581625
- 802 views
Brief Research Report
Published on 23 May 2025
Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1541946
- 990 views
Case Report
Published on 22 May 2025
Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1565296
- 1,005 views
Original Research
Published on 22 May 2025
Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1541333
- 884 views
Original Research
Published on 19 May 2025
Normal hearing function genetics: have you heard all about it? An integrated approach of genome-wide association studies and transcriptome-wide association studies in three Italian cohorts
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1522338
- 1,056 views
Case Report
Published on 19 May 2025
Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595298
- 703 views
Original Research
Published on 13 May 2025
A novel loss-of-function SYCP2 variant causes asthenoteratozoospermia in infertile males
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1595720
- 860 views
Original Research
Accepted on 12 May 2025
Two Novel Cases with PIGQ-CDG: Expansion of the Genotype-Phenotype Spectrum and Evaluation of GestaltMatcher as a Diagnostic Tool
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1598602
- 157 views
Correction
Published on 12 May 2025
Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1620297
- 756 views
Original Research
Published on 12 May 2025
Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1574076
- 868 views
Case Report
Published on 09 May 2025
Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1570141
- 968 views
Original Research
Published on 09 May 2025
Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1584310
- 686 views
Brief Research Report
Published on 09 May 2025
Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1591409
- 834 views