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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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- Journal Article
- A1
- open access
Enhanced MCP-1 release in early autosomal dominant polycystic kidney disease
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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
Metal mining and birth defects : a case-control study in Lubumbashi, Democratic Republic of the Congo
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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- Journal Article
- A1
- open access
Large expert-curated database for benchmarking document similarity detection in biomedical literature search
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Arterial tortuosity syndrome : 40 new families and literature review
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Congenital malformations and trace metals: a case-control study from Lubumbashi, DR Congo
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Arterial tortuosity syndrome : 40 new families and literature review