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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Chromosomal Proteins, Non-Histone
Concept	Optic Lobe, Nonmammalian
Concept	Nonmuscle Myosin Type IIB
Concept	Cognitive Dysfunction
Concept	Codon, Nonsense
Concept	Statistics, Nonparametric
Concept	Nonsense Mediated mRNA Decay
Academic Article	Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article	Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
Academic Article	Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article	Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article	Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence.
Academic Article	Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article	Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article	Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article	The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Academic Article	Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.
Academic Article	Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate.
Academic Article	NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Academic Article	Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Academic Article	Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Academic Article	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article	De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Academic Article	Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Grant	Mosaic: post-zygotic mutations in vascular malformations

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