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Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes...

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Detalhes bibliográficos
Main Authors: Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427206/
https://ncbi.nlm.nih.gov/pubmed/18319076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.01.011
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