ORIGINAL RESEARCH
Published on 07 Oct 2026
Diagnostic utility of whole exome sequencing in children with suspected genodermatoses: a single-center retrospective study
doi 10.3389/fmed.2026.1932248
- 447 views
Articles
ORIGINAL RESEARCH
Published on 06 Oct 2026
NF-κB p65 iso5 Δ6/7 and p65 iso5 Δ10 isoforms drive immune-inflammatory remodeling in Fabry disease and GLA variants of uncertain significance
doi 10.3389/fimmu.2026.1922658
- 496 views
ORIGINAL RESEARCH
Published on 13 May 2026
Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases
doi 10.3389/fmed.2026.1799731
- 1,240 views
ORIGINAL RESEARCH
Published on 27 Apr 2026
Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD
doi 10.3389/fendo.2026.1807069
- 1,392 views
ORIGINAL RESEARCH
Accepted on 06 Oct 2026
Pontocerebellar Hypoplasia Type 2D in Two Acadian Families: Functional RNA Characterization of the Recurrent SEPSECS c.388+3A>G Variant
- 124 views
