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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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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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A clinical scoring system for congenital contractural arachnodactyly
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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Role of CGH array in the diagnosis of autosomal recessive disease : a case of Ellis-van Creveld syndrome
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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Late onset painful cold-aggravated myotonia : three families with SCN4A L1436P mutation
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Floating harbor syndrome associated with middle ear abnormalities