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pro vyhledávání: '"Heather Christy"'
Autor:
Mefford, Heather Christy
Publikováno v:
Connect to this title online; UW restricted.
Thesis (Ph. D.)--University of Washington, 2001.
Vita. Includes bibliographical references (leaves 134-150).
Vita. Includes bibliographical references (leaves 134-150).
Externí odkaz:
http://hdl.handle.net/1773/10302
Autor:
Elizabeth A. Lindsay, Ramesh C. Juyal, Ken-Shiung Chen, James R. Lupski, Antonio Baldini, Frank Greenberg, Ger van den Engh, Barbara J. Trask, Lisa G. Shaffer, Pragna Patel, Gregory A. Mengden, Heather Christy
Publikováno v:
American journal of medical genetics. 58(3)
The availability of markers for the 17p11.2 region has enabled the diagnosis of Smith-Magenis syndrome (SMS) by fluorescence in situ hybridization (FISH). SMS is typically associated with a discernible deletion of band 17p11.2 upon cytogenetic analys