Show
Sort by
-
- Journal Article
- A1
- open access
Domestication and selection footprints in Persian walnuts (Juglans regia)
-
- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
-
- Journal Article
- A1
- open access
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
-
Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
-
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
-
- Journal Article
- A1
- open access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
-
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
-
- Miscellaneous
- open access
Editorial : molecular mechanisms of heritable connective tissue disorders
-
- Journal Article
- A1
- open access
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
-
Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
-
- Journal Article
- A1
- open access
Open problems in extracellular RNA data analysis : insights from an ERCC online workshop
-
- Journal Article
- A1
- open access
Comparative analysis of antibody- and lipid-based multiplexing methods for single-cell RNA-seq
-
- Miscellaneous
- open access
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)
-
- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
-
- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
-
- Journal Article
- A1
- open access
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease : an international retrospective cohort study
-
- Journal Article
- A1
- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
-
Engineering transcriptional regulation in Escherichia coli using an archaeal TetR-family transcription factor
-
- Journal Article
- A1
- open access
Nearby transposable elements impact plant stress gene regulatory networks : a meta-analysis in A. thaliana and S. lycopersicum
-
- Journal Article
- A1
- open access
Spatiotemporal expression profile of novel and known small RNAs throughout rice plant development focussing on seed tissues