Case Report
Published on 15 Aug 2025
A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1593964
- 309 views
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1,908 articles
Original Research
Published on 14 Aug 2025
Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1638472
- 301 views
Original Research
Published on 14 Aug 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1622391
- 350 views
Original Research
Published on 13 Aug 2025
Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1572966
- 324 views
Case Report
Published on 13 Aug 2025
Case Report: Unmasking the role of rem sleep in modulating non-convulsive status epilepticus in ring chromosome 20 syndrome: a genetic disorder of sleep architecture?
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1626457
- 393 views
Editorial
Published on 12 Aug 2025
Editorial: Genetics of non-syndromic hearing loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1665942
- 417 views
Original Research
Accepted on 11 Aug 2025
Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1642604
Case Report
Published on 11 Aug 2025
Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1585453
- 1,048 views
Brief Research Report
Published on 08 Aug 2025
A unique case of late-onset CIPO caused by a missense mutation in the long isoform of FLNA
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1611614
- 479 views
Original Research
Published on 08 Aug 2025
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1584681
- 1,107 views
Original Research
Published on 08 Aug 2025
Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis–Varon syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1624122
- 391 views
Original Research
Published on 06 Aug 2025
Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1591551
- 598 views
Original Research
Published on 05 Aug 2025
Identification of immune-related diagnostic genes and immune cell infiltration in aseptic loosening of prostheses after total hip arthroplasty by integrated bioinformatics analysis and experimental confirmation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1597219
- 411 views
Editorial
Accepted on 01 Aug 2025
Editorial: Rare Diseases Research and Diagnosis in Low-and Middle-Income Countries
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1675361
- 239 views
Original Research
Published on 30 Jul 2025
Exploration of potential biomarkers and immune cell infiltration characteristics for peripheral atherosclerosis in sjögren’s syndrome based on comprehensive bioinformatics analysis and machine learning
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1546315
- 662 views
Original Research
Accepted on 29 Jul 2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1592306
- 237 views