Výsledky vyhledávání - Dinah Yaeger
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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Autor Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz
Vydáno 2004Artigo -
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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation Autor Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz
Vydáno 2007Artigo -
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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Autor Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Maninder Kaur, Lynette A. Gillis, Dinah Yaeger, Lori Jukofsky, Nora Wasserman, Armand Bottani, Colleen A. Morris, Małgorzata J.M. Nowaczyk, Helga V. Toriello, Michael J. Bamshad, John C. Carey, Eric Rappaport, Shimako Kawauchi, Arthur D. Lander, Anne L. Calof, Hui-hua Li, Marcella Devoto, Laird G. Jackson
Vydáno 2004Artigo