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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
Name
Academic Article
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Academic Article
The phenotype of recurrent 10q22q23 deletions and duplications.
Academic Article
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Academic Article
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article
Phenotype expansion and development in Kosaki overgrowth syndrome.
Concept
Megalencephaly
Academic Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Search Criteria
Megalencephaly