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We report 12 individuals from ten unrelated families with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities, who segregated a microdeletion distally adjacent to the Williams-Beuren syndrome region. In six families, a recurrent ~ 1.1 Mb deletion likely result...
ORGANISM(S): Homo sapiens 
Validation of a custom low density microarray. Gene expression differences were analysed in the following groups of blood samples and cell lines:
Two haematological neoplasia cell lines: U937 (promonocytic lymphoma) versus Jurkat (T leukemia).
Different types of haematological neoplasias: heal...
ORGANISM(S): Homo sapiens 

The overarching goals of the ADSP are to: (1) identify new genomic variants contributing to increased risk of developing AD, (2) identify new genomic variants contributing to protection against developing AD, and (3) provide insight as to why individuals with known risk factor variants escape fro...

Background: Neuronal and glial differentiation in the murine hypothalamus is not complete at birth, but continues over the first two weeks postnatally. Nutritional status and Leptin deficiency can influence the maturation of neuronal projections and glial patterns, and hypothalamic gliosis occurs in...
ORGANISM(S): Mus musculus 
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