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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndromeCampeau, Philippe M. ; Hennekam, Raoul C.American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.327-332United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Defense Acquisitions: DoD's Cybersecurity Maturity Model Certification FrameworkPeters, Heidi MDefense AR journal, 2022-04, Vol.29 (2), p.178Defense Acquisition University PressTexto completo disponível |
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Department of Defense Use of Other Transaction Authority: Background, Analysis, and Issues for CongressSchwartz, Moshe ; Peters, Heidi MDefense AR journal, 2020-01, Vol.27 (1), p.114-114Fort Belvoir: Superintendent of DocumentsTexto completo disponível |
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Material Type: Report
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Material Type: Report
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Material Type: Report
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Department of Defense Contractor and Troop Levels in Iraq and Afghanistan: 2007-2016Peters,Heidi M ; Schwartz,Moshe ; Kapp,Lawrence2016Texto completo disponível |
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Material Type: Artigo
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Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeWoodcock, Ian R., MBBS, MRCPCH, MSc ; Menezes, Manoj P., MBBS, FRACP, PhD ; Coleman, Lee, MBCHB, FRANZCR, BSc ; Yaplito-Lee, Joy, MD, FRACP ; Peters, Heidi, MBBS, FRACP, PhD ; White, Susan M., MBBS, FRACP ; Stapleton, Rachel, MBBS ; Phelan, Dean G., BSc ; Chong, Belinda, PhD ; Lunke, Sebastian, PhD ; Stark, Zornitza, BM, BCh, FRACP, MA ; Pitt, James, PhD, FFSc (RCPA) ; Ryan, Monique M., MBBS, FRACP, MMed ; Robertson, Colin, MBBS, FRACP, MSc, MD ; Yiu, Eppie M., MBBS, FRACP, PhDSeminars in pediatric neurology, 2018-07, Vol.26, p.2-9 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionVan Bergen, Nicole J ; Hock, Daniella H ; Spencer, Lucy ; Massey, Sean ; Stait, Tegan ; Stark, Zornitza ; Lunke, Sebastian ; Roesley, Ain ; Peters, Heidi ; Lee, Joy Yaplito ; Le Fevre, Anna ; Heath, Oliver ; Mignone, Cristina ; Yang, Joseph Yuan-Mou ; Ryan, Monique M ; D'Arcy, Colleen ; Nash, Margot ; Smith, Sile ; Caruana, Nikeisha J ; Thorburn, David R ; Stroud, David A ; White, Susan M ; Christodoulou, John ; Brown, Natasha JInternational journal of molecular sciences, 2022-01, Vol.23 (2), p.986 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsNg, Bobby G. ; Shiryaev, Sergey A. ; Rymen, Daisy ; Eklund, Erik A. ; Raymond, Kimiyo ; Kircher, Martin ; Abdenur, Jose E. ; Alehan, Fusun ; Midro, Alina T. ; Bamshad, Michael J. ; Barone, Rita ; Berry, Gerard T. ; Brumbaugh, Jane E. ; Buckingham, Kati J. ; Clarkson, Katie ; Cole, F. Sessions ; O'Connor, Shawn ; Cooper, Gregory M. ; Van Coster, Rudy ; Demmer, Laurie A. ; Diogo, Luisa ; Fay, Alexander J. ; Ficicioglu, Can ; Fiumara, Agata ; Gahl, William A. ; Ganetzky, Rebecca ; Goel, Himanshu ; Harshman, Lyndsay A. ; He, Miao ; Jaeken, Jaak ; James, Philip M. ; Katz, Daniel ; Keldermans, Liesbeth ; Kibaek, Maria ; Kornberg, Andrew J. ; Lachlan, Katherine ; Lam, Christina ; Yaplito-Lee, Joy ; Nickerson, Deborah A. ; Peters, Heidi L. ; Race, Valerie ; Régal, Luc ; Rush, Jeffrey S. ; Rutledge, S. Lane ; Shendure, Jay ; Souche, Erika ; Sparks, Susan E. ; Trapane, Pamela ; Sanchez-Valle, Amarilis ; Vilain, Eric ; Vøllo, Arve ; Waechter, Charles J. ; Wang, Raymond Y. ; Wolfe, Lynne A. ; Wong, Derek A. ; Wood, Tim ; Yang, Amy C. ; Matthijs, Gert ; Freeze, Hudson H.Human mutation, 2016-07, Vol.37 (7), p.653-660 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vectorWong, Edward S Y ; McIntyre, Chantelle ; Peters, Heidi L ; Ranieri, Enzo ; Anson, Donald S ; Fletcher, Janice MHuman gene therapy, 2014-06, Vol.25 (6), p.529-538 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |