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- Journal Article
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- open access
Domestication and selection footprints in Persian walnuts (Juglans regia)
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Journal Article
- A1
- open access
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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- Journal Article
- A1
- open access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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- Miscellaneous
- open access
Editorial : molecular mechanisms of heritable connective tissue disorders
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- 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
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts