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of 4
pro vyhledávání: '"Hayley Webber"'
Autor:
Kiyonori Miura, Tatsuya Kishino, En Li, Hayley Webber, Pieter Dikkes, Gregory L. Holmes, Joseph Wagstaff
Publikováno v:
Neurobiology of Disease, Vol 9, Iss 2, Pp 149-159 (2002)
Angelman syndrome (AS), characterized by motor dysfunction, mental retardation, and seizures, is caused by several genetic etiologies involving chromosome 15q11–q13, including mutations of the UBE3A gene. UBE3A encodes UBE3A/E6-AP, a ubiquitin-prot
Externí odkaz:
https://doaj.org/article/853ef29b3ca04dee881768324d588a4d
Autor:
Charles A. Williams, Roberta A. Pagon, Joseph Wagstaff, Anne Moncla, Tatsuya Kishino, Hayley Webber, Perrine Malzac, John M. Graham, Linda A. Ramsdell, Mary K. Kukolich
Publikováno v:
The American Journal of Human Genetics. 62(6):1353-1360
SummaryAngelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. UBE3A encodes a ubiquitin-protein ligase and shows brain
Publikováno v:
American Journal of Clinical Pathology. 138:A233-A233
With the commercial availability of new high-risk HPV screening assays, we sought to compare a real-time PCR-based assay with our current signal amplification assay. The Cobas 4800 HPV assay (Roche Molecular Diagnostics, Indianapolis, IN) recently re
Autor:
Gabrielle Royal, Hayley Webber
Publikováno v:
American Journal of Clinical Pathology. 138:A360-A360