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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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Brachydactyly
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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations