31 research outputs found

    Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A

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    Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral problems, no speech, microcephaly, feeding problems with frequent regurgi

    Interphase cytogenetics in tumor pathology

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    Contains fulltext : mmubn000001_173259545.pdf (publisher's version ) (Open Access)Promotores : F. Ramaekers, G. Vooijs en A. Hopman152 p

    A novel in situ hybridization signal amplification method based on the deposition of biotinylated tyramine

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    Contains fulltext : 21760___.PDF (publisher's version ) (Open Access
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