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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
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Toepassing van microarray-analyse in de genetische diagnostiek
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)
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- Journal Article
- A1
- open access
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening
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- Journal Article
- A1
- open access
Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Molecular karyotyping: a powerful tool for the study of genomic defects in patients with mental retardation
(2009) -
The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy