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Your search keyword '"Berkel, Izzet"' showing total 2 results
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2 results on '"Berkel, Izzet"'

1. Griscelli Disease: Genotype-Phenotype Correlation in an Array of Clinical Heterogeneity.

Author

Sanal, Ozden, Ersoy, Fugen, Tezcan, Ilhan, Metin, Ayse, Yel, Leman, Menasche, Gael, Gurgey, Aytemiz, Berkel, Izzet, and De Saint Basile, Genevieve

Subjects
GENETIC disorders, GENOTYPE-environment interaction, PHENOTYPES
Abstract

Relates the laboratory and clinical findings of 13 unrelated patients with Griscelli disease as well as mutation analyses in an effort to define a genotype-phenotype correlation. Heterogenous clinical picture presented by the disease that seems to reflect the involved gene defect; Data indicating that the natural course of the disease and outcome is dictated by the type and site of the genetic mutation.

Published
2002

2. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

Author

Gatti, Richard A., Berkel, Izzet, Boder, Elena, Braedt, Gary, Charmley, Patrick, Concannon, Patrick, Ersoy, Fugen, Foroud, Tatiana, Jaspers, Nicholas G. J., Lange, Kenneth, Lathrop, G. Mark, Leppert, Mark, Nakamura, Yusuke, O'Connell, Peter, Paterson, Malcolm, Salser, Winston, Sanal, Ozden, Silver, Jack, Sparkes, Robert S., and Susi, Ellen

Published
1988
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