prof. dr. Elfride De Baere
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- Journal Article
- A2
- open access
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
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- Conference Paper
- C3
- open access
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Journal Article
- A1
- open access
The genetic diagnosis of rare endocrine disorders of sex development and maturation : a survey among Endo-ERN centres
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Blepharophimosis, ptosis, and epicanthus inversus syndrome
(2022) In GeneReviews -
- Journal Article
- A1
- open access
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
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- Journal Article
- A1
- open access
Endocrine outcome and seminal parameters in young adult men born with hypospadias : a cross-sectional cohort study
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
- Journal Article
- A1
- open access
Recommendations for whole genome sequencing in diagnostics for rare diseases