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One or more keywords matched the following items that are connected to
Dubbs, Holly
| Item Type | Name |
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Concept
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Chromosome Aberrations
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Concept
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Chromosome Deletion
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Concept
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Chromosomes, Human, Pair 11
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Concept
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Chromosomes, Human, Pair 15
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosomes, Human, Pair 19
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Concept
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Chromosomes, Human, Pair 20
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Concept
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Chromosome Disorders
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Concept
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Chromosome Duplication
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Academic Article
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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
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Academic Article
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Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
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Academic Article
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Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
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Academic Article
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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
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Academic Article
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
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Academic Article
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Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
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Academic Article
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10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
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