Mini Review
Published on 19 Mar 2025
Congenital heart disease presentations in the 15q11.2 microdeletion syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1535732
- 856 views
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1,839 articles
Case Report
Published on 19 Mar 2025
Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1465527
- 782 views
Original Research
Published on 18 Mar 2025
Bioinformatics revealed biomarkers for diagnosis in kidney stones
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1542840
- 973 views
Case Report
Published on 14 Mar 2025
Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1554624
- 842 views
Correction
Published on 13 Mar 2025
Corrigendum: Case report and literature review: delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in the EFEMP2 gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1589037
- 436 views
Case Report
Published on 12 Mar 2025
Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1463485
- 834 views
Case Report
Published on 11 Mar 2025
A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1525941
- 630 views
Original Research
Published on 10 Mar 2025
Detection of a novel large fragment deletion in the alpha-globin gene cluster using the CNVplex technology
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1518392
- 672 views
Original Research
Published on 10 Mar 2025
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.2025.1526077
- 815 views
Case Report
Published on 07 Mar 2025
Case Report: Area of focus clinical presentation and KMT2D gene mutation at the c.15535C>T site in a case of Kabuki syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1523228
- 1,396 views
Case Report
Published on 06 Mar 2025
Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1414129
- 498 views
Original Research
Published on 06 Mar 2025
Association between single nucleotide polymorphisms in EPAS1 and PPARA genes and high altitude polycythemia in Chinese Tibetan population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1519108
- 648 views
Brief Research Report
Published on 05 Mar 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1488956
- 1,357 views
Original Research
Published on 05 Mar 2025
Identifying pathological myopia associated genes with GenePlexus in protein-protein interaction network
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1533567
- 759 views
Original Research
Published on 05 Mar 2025
Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1522406
- 684 views
Case Report
Published on 28 Feb 2025
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1528563
- 937 views