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
- 2,611 views
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1,706 articles
Articles
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
- 1,985 views
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
- 2,221 views
- 1 citation
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
- 2,287 views
- 1 citation
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
- 5,854 views
- 4 citations
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
- 1,599 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
- 1,794 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
- 1,537 views
- 1 citation
Case Report
Published on 14 Sep 2023
Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1122893
- 1,274 views
- 1 citation
Original Research
Published on 14 Sep 2023
Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1169868
- 1,451 views
Case Report
Published on 13 Sep 2023
A rare case of mosaic Klinefelter syndrome in a 45-year-old man leading to successful live birth through ejaculated spermatozoa: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1242180
- 4,291 views
- 1 citation
Review
Published on 11 Sep 2023
Advances in genetic variation in metabolism-related fatty liver disease
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1213916
- 2,123 views
- 5 citations
Original Research
Published on 11 Sep 2023
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1254909
- 1,811 views
Case Report
Published on 07 Sep 2023
Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1248544
- 1,755 views
- 1 citation
Case Report
Published on 07 Sep 2023
Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1228682
- 1,646 views
Case Report
Published on 07 Sep 2023
Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1240701
- 1,866 views