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- 2020
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Mark
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
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- Contribution to journal › Article
- 2019
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Mark
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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- Contribution to journal › Article
- 2014
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Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
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- Contribution to journal › Article
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Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
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- Contribution to journal › Article
- 2011
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Mark
Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
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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