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