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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
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- Journal Article
- A1
- open access
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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- Journal Article
- A1
- open access
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
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- Journal Article
- A1
- open access
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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FOXP1-related intellectual disability syndrome : a recognisable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
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Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis