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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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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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- Journal Article
- A1
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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- Journal Article
- A1
- open access
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype