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
- 2,389 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
3,937
Total downloads
13k
Total views and downloads
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
- 2,891 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
- 3,046 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
- 2,647 views
- 9 citations
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.0 impact factor
- 4.3 citescore