about
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange SyndromeFurther clinical and molecular delineation of the 15q24 microdeletion syndromeMutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Redefining the MED13L syndromeSpectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.The contribution of 7q33 copy number variations for intellectual disability.Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.CADASIL: MRI may be normal in the fourth decade of life - a case report.[Genetics on Primary Healthcare: A Multidisciplinary Perspective]
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P50
description
onderzoeker
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researcher ORCID: 0000-0002-6041-1763
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name
João Silva
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João Silva
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João Silva
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João Silva
@nl
type
label
João Silva
@ast
João Silva
@en
João Silva
@es
João Silva
@nl
prefLabel
João Silva
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João Silva
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João Silva
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João Silva
@nl
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0000-0002-6041-1763