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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Sex Chromosome Disorders
Concept Chromosome Disorders
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article A classification scheme for malformations of cortical development.
Academic Article Absence makes the search grow longer.
Academic Article Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Academic Article Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Search Criteria
  • Chromosome Disorders