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Ana Cristina Krepischi-Santos

University of São Paulo

25

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1452

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Maternally Inherited Partial Monosomy 9p (pter ! p24.1) and Partial Trisomy 20p (pter ! p12.1) Characterized by Microarray Comparative Genomic Hybridization

2011 American Journal of Medical Genetics Part A
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Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

2009 Cytogenetic and Genome Research
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

2008 Journal of Medical Genetics
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aplasiaimbalances associated with müllerian

2008
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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

2008 Journal of Medical Genetics
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aplasia Genomic imbalances associated with mllerian

2008
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Array-CGH testing in spontaneous abortions with normal karyotypes

2008 Genetics and Molecular Biology
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Research Letter Chromosome Abnormalities in Two Patients With Features of Autosomal Dominant Robinow Syndrome

2007
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Genomic imbalances associated with müllerian aplasia

2007 Journal of Medical Genetics
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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

2007 American Journal of Medical Genetics Part A
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Citations (12)