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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Karyotyping
Academic Article
Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article
Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
Academic Article
Absence makes the search grow longer.
Academic Article
Causal heterogeneity in isolated lissencephaly.
Academic Article
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
Academic Article
Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
Search Criteria
Karyotyping