Brief Research Report
Published on 04 Oct 2023
Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1232059
Type at least 3 characters
1,541 articles
Articles
Original Research
Accepted on 29 Sep 2023
Capturing Heart Valve Development with Gene Ontology
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1251902
Editorial
Published on 29 Sep 2023
Editorial: Genetics of female infertility
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1297173
- 812 views
Case Report
Published on 27 Sep 2023
Case report: Noonan syndrome with protein-losing enteropathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1237821
- 1,129 views
Case Report
Published on 27 Sep 2023
Case report: A case of new mutation in SERPINC1 leading to thrombotic microangiopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1278511
- 1,025 views
Case Report
Accepted on 26 Sep 2023
Expanding the Understanding of the Adult Polyglucosan Body Disease Continuum: Novel Presentations, Diagnostic Pitfalls, and Clinical Pearls
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1282790
Original Research
Accepted on 26 Sep 2023
Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1267892
Case Report
Accepted on 25 Sep 2023
Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1208540
Case Report
Published on 21 Sep 2023
Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1244983
- 637 views
Original Research
Published on 20 Sep 2023
Uncovering structural variants associated with body weight and obesity risk in labrador retrievers: a genome-wide study
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1235821
- 668 views
Original Research
Published on 20 Sep 2023
Prospect of genetic disorders in Saudi Arabia
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1243518
- 1,808 views
Original Research
Accepted on 18 Sep 2023
Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1248338
Brief Research Report
Published on 18 Sep 2023
Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1221853
- 381 views
Brief Research Report
Published on 18 Sep 2023
Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1240758
- 873 views
Case Report
Published on 18 Sep 2023
Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1235650
- 309 views
Case Report
Accepted on 15 Sep 2023
ADULT syndrome: A rare case of congenital lacrimal duct abnormality
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1150613