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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Spasms, Infantile
Academic Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Academic Article
Polyalanine expansion of ARX associated with cryptogenic West syndrome.
Academic Article
Clinical manifestations and evaluation of isolated lissencephaly.
Academic Article
Genetic and biologic classification of infantile spasms.
Academic Article
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
Academic Article
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Academic Article
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Academic Article
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
Search Criteria
Spasm