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- Journal Article
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- open access
Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly
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- Journal Article
- A1
- open access
Clinical implementation of gene panel testing for lysosomal storage diseases
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Expanding the clinical spectrum of biallelic ZNF335 variants
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Did lightning strike twice?
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Array comparative genomic hybridization in male infertility
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Do we need to search for gr/gr deletions in infertile men in a clinical setting?