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Items: 3

1.
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes
Ana Justino, Patrícia Dias, Maria João Pina, Sónia Sousa, Luís Cirnes, Ana Berta Sousa, José Carlos Machado, José Luis Costa
Eur J Hum Genet. 2015 Mar; 23(3): 347–353. Published online 2014 Jun 4. doi: 10.1038/ejhg.2014.97
PMCID:
PMC4326724
AbstractArticlePDF–1.1M
2.
Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs
Mark G. Kris, Bruce E. Johnson, Lynne D. Berry, David J. Kwiatkowski, A. John Iafrate, Ignacio I. Wistuba, Marileila Varella-Garcia, Wilbur A. Franklin, Samuel L. Aronson, Pei-Fang Su, Yu Shyr, D. Ross Camidge, Lecia V. Sequist, Bonnie S. Glisson, Fadlo R. Khuri, Edward B. Garon, William Pao, Charles Rudin, Joan Schiller, Eric B. Haura, Mark Socinski, Keisuke Shirai, Heidi Chen, Giuseppe Giaccone, Marc Ladanyi, Kelly Kugler, John D. Minna, Paul A. Bunn
JAMA. Author manuscript; available in PMC 2014 Nov 21.
Published in final edited form as: JAMA. 2014 May 21; 311(19): 1998–2006. doi: 10.1001/jama.2014.3741
PMCID:
PMC4163053
AbstractArticlePDF–387K
3.
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
Belinda Giardine, Joseph Borg, Emmanouil Viennas, Cristiana Pavlidis, Kamran Moradkhani, Philippe Joly, Marina Bartsakoulia, Cathy Riemer, Webb Miller, Giannis Tzimas, Henri Wajcman, Ross C. Hardison, George P. Patrinos
Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D1063–D1069. Published online 2013 Oct 9. doi: 10.1093/nar/gkt911
PMCID:
PMC3964999
AbstractArticlePDF–5.4M

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