CASE REPORT
Published on 10 Oct 2022
Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
doi 10.3389/fgene.2022.999442
- 2,245 views
- 3 citations
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- RNA-Seq and transcriptome-based approaches to aid in the diagnosis and understanding of genetic diseases
RNA-Seq and transcriptome-based approaches to aid in the diagnosis and understanding of genetic diseases
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Articles
ORIGINAL RESEARCH
Published on 04 Feb 2022
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
doi 10.3389/fgene.2021.803683
- 2,800 views
- 2 citations
CASE REPORT
Published on 25 Jan 2022
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia
doi 10.3389/fgene.2022.815210
- 2,890 views
- 9 citations
ORIGINAL RESEARCH
Published on 15 Dec 2021
A Novel Competing Endogenous RNA Network Associated With the Pathogenesis of Graves’ Ophthalmopathy
doi 10.3389/fgene.2021.795546
- 2,571 views
- 9 citations
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore