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- Journal Article
- A1
- open access
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
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Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
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- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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The environmental impact of household's water use : a case study in Flanders assessing various water sources, production methods and consumption patterns
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients
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A familial heterozygous null mutation of MET in autism spectrum disorder
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
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A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome
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IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign