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One or more keywords matched the following items that are connected to
Dobyns, William
Item Type | Name |
Concept
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Nucleic Acid Hybridization
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Concept
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Comparative Genomic Hybridization
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Academic Article
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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
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Academic Article
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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Academic Article
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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Academic Article
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Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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Academic Article
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A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
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Academic Article
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
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Academic Article
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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Academic Article
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
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Academic Article
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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
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Academic Article
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
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Academic Article
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Duplication 2p16 is associated with perisylvian polymicrogyria.
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Academic Article
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
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- Nucleic Acid Hybridization