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- Journal Article
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- 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
Distinct antibody repertoires against endemic human coronaviruses in children and adults
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations
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- Journal Article
- A1
- open access
Three cases of molecularly confirmed Knobloch syndrome
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- Journal Article
- A1
- open access
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients
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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