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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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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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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal 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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Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome