Thomas Jefferson University

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Dubbs, Holly
One or more keywords matched the following items that are connected to Dubbs, Holly
Item TypeName
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 20
Concept Chromosomes, Human, Pair 9
Concept Chromosome Disorders
Concept Chromosome Duplication
Academic Article ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Academic Article Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Academic Article Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
Academic Article PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Academic Article Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Academic Article Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Academic Article 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
Academic Article Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.
Academic Article 16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.
Search Criteria
  • Chromosomes Human Pair 5