Case Report
Published on 10 Dec 2024
Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1502444
- 369 views
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1,779 articles
Articles
Case Report
Accepted on 09 Dec 2024
Identification of a novel frameshift variation in ANKRD11: A case report of KBG syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1439905
Original Research
Published on 09 Dec 2024
UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1419755
- 230 views
Brief Research Report
Published on 09 Dec 2024
Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1505629
- 215 views
Case Report
Published on 06 Dec 2024
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1486977
- 336 views
Case Report
Published on 05 Dec 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1437859
- 313 views
Original Research
Accepted on 04 Dec 2024
An investigation of a hemophilia A female with heterozygous Intron 22 inversion and skewed X chromosome inactivation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1500167
Original Research
Accepted on 02 Dec 2024
Detection of inversion with breakpoint in ARSB causing MPSVI by whole genome sequencing: Lessons Learned and Best Practice
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1452498
Editorial
Published on 02 Dec 2024
Editorial: Recent advances in understanding the genetics of immunological disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1530187
- 428 views
Brief Research Report
Published on 29 Nov 2024
Genewise detection of variants in MEFV gene using nanopore sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1493295
- 677 views
Brief Research Report
Published on 29 Nov 2024
Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1457569
- 322 views
Original Research
Published on 29 Nov 2024
Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1477291
- 640 views
Case Report
Published on 28 Nov 2024
Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1491649
- 337 views
Case Report
Published on 28 Nov 2024
Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1468878
- 469 views
Original Research
Published on 26 Nov 2024
Longitudinal transcriptome analysis reveals distinct gene expression patterns in traditional Chinese medicine syndromes of upper respiratory tract infections
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1483098
- 401 views
Original Research
Published on 25 Nov 2024
Transcriptome analysis revealed that ischemic post-conditioning suppressed the expression of inflammatory genes in lung ischemia-reperfusion injury
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1425420
- 533 views