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- 2020
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Mark
Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
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- Contribution to journal › Article
- 2019
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Mark
Attitudes of publics who are unwilling to donate DNA data for research
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- Contribution to journal › Article
- 2015
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Mark
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.
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- Contribution to journal › Article
- 2011
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Mark
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
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- Contribution to journal › Article
- 2010
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Mark
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
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- Contribution to journal › Article
- 2007
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Mark
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
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- Contribution to journal › Article
- 2005
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Mark
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb
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- Contribution to journal › Article