Case Report
Accepted on 13 Feb 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
Type at least 3 characters
1,798 articles
Articles
Original Research
Accepted on 13 Feb 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
Case Report
Accepted on 13 Feb 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
Brief Research Report
Accepted on 12 Feb 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
Editorial
Accepted on 12 Feb 2025
Editorial: Recent Advances in Causes, Diagnosis, and Therapeutics for Congenital Heart Defects
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1564492
Case Report
Accepted on 10 Feb 2025
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1512070
Case Report
Accepted on 10 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
Case Report
Accepted on 10 Feb 2025
Clinicopathological characteristics of SASH1 mutations 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
Case Report
Accepted on 05 Feb 2025
A Case Report of Oculopharyngodistal Myopathy with 126 CGG Repeat Expansions in RILPL1
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1472907
Original Research
Accepted on 05 Feb 2025
LINC00461 SNPs rs933647 and rs201864123 modify the risk of adenoid hypertrophy susceptibility for children in South China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1509053
Case Report
Accepted on 30 Jan 2025
A novel intronic JMJD6 likely pathogenic variant (c.941+75G>T) associated with congenital eyelid coloboma in one of the identical twin sisters
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1536000
Original Research
Published on 30 Jan 2025
Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1531697
- 233 views
Case Report
Published on 30 Jan 2025
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1522204
- 352 views
Case Report
Published on 28 Jan 2025
Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1502756
- 364 views
Original Research
Published on 27 Jan 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1475054
- 307 views
Original Research
Accepted on 21 Jan 2025
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1514610