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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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- Journal Article
- open access
Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience
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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
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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Marked hypotonia : an additional feature of ANO3-related movement disorder