Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
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 |
2 |
Material Type: Artigo
|
![]() |
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 |
3 |
Material Type: Artigo
|
![]() |
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 |
4 |
Material Type: Artigo
|
![]() |
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 |
5 |
Material Type: Artigo
|
![]() |
Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case SeriesCrowe, Louise M. ; Brown, Amy ; Peters, HeidiJournal of pediatric neurology, 2022-06, Vol.20 (3), p.198-201 [Periódico revisado por pares]Rüdigerstraße 14, 70469 Stuttgart, Germany: Georg Thieme Verlag KGTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIBOkur, Ilyas ; Ezgu, Fatih ; Giugliani, Roberto ; Muschol, Nicole ; Koehn, Anja ; Amartino, Hernan ; Harmatz, Paul ; de Castro Lopez, Maria J. ; Couce, Maria Luz ; Lin, Shuan-Pei ; Batzios, Spyros ; Cleary, Maureen ; Solano, Martha ; Peters, Heidi ; Lee, Joy ; Nestrasil, Igor ; Shaywitz, Adam J. ; Maricich, Stephen M. ; Kuca, Bernice ; Kovalchin, Joseph ; Zanelli, EricThe Journal of pediatrics, 2022-10, Vol.249, p.50-58.e2 [Periódico revisado por pares]Texto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsWilson, Matthew P. ; Garanto, Alejandro ; Pinto e Vairo, Filippo ; Ng, Bobby G. ; Ranatunga, Wasantha K. ; Ventouratou, Marina ; Baerenfaenger, Melissa ; Huijben, Karin ; Thiel, Christian ; Ashikov, Angel ; Keldermans, Liesbeth ; Souche, Erika ; Vuillaumier-Barrot, Sandrine ; Dupré, Thierry ; Michelakakis, Helen ; Fiumara, Agata ; Pitt, James ; White, Susan M. ; Lim, Sze Chern ; Gallacher, Lyndon ; Peters, Heidi ; Rymen, Daisy ; Witters, Peter ; Ribes, Antonia ; Morales-Romero, Blai ; Rodríguez-Palmero, Agustí ; Ballhausen, Diana ; de Lonlay, Pascale ; Barone, Rita ; Janssen, Mirian C.H. ; Jaeken, Jaak ; Freeze, Hudson H. ; Matthijs, Gert ; Morava, Eva ; Lefeber, Dirk J.American journal of human genetics, 2021-11, Vol.108 (11), p.2130-2144 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studiesGiugliani, Roberto ; Okur, Ilyas ; Ezgu, Fatih ; Muschol, Nicole ; Harmatz, Paul ; de Castro Lopez, Maria ; Couce, Maria Luz ; Lin, Shuan-Pei ; Batzios, Spyros ; Cleary, Maureen ; Solano, Martha ; Amartino, Hernan ; Peters, Heidi ; Lee, Joy ; Kovalchin, Joseph ; Zanelli, Eric ; Maricich, Stephen M.Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S44-S44 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsWilson, Matthew P ; Garanto, Alejandro ; Vairo, Filippo Pinto E ; Ng, Bobby G ; Ranatunga, Wasantha K ; Ventouratou, Marina ; Baerenfaenger, Melissa ; Huijben, Karin ; Thiel, Christian ; Ashikov, Angel ; Keldermans, Liesbeth ; Souche, Erika ; Vuillaumier-Barrot, Sandrine ; Dupre, Thierry ; Michelakakis, Helen ; Fiumara, Agata ; Pitt, James ; White, Susan M ; Lim, Sze Chern ; Gallacher, Lyndon ; Peters, Heidi ; Rymen, Daisy ; Witters, Peter ; Ribes, Antonia ; Morales-Romero, Blai ; Rodriguez-Palmero, Agusti ; Ballhausen, Diana ; de Lonlay, Pascale ; Barone, Rita ; Janssen, Mirian CH ; Jaeken, Jaak ; Freeze, Hudson H ; Matthijs, Gert ; Morava, Eva ; Lefeber, Dirk JAMERICAN JOURNAL OF HUMAN GENETICS, 2021-11, Vol.108 (11), p.2130-2144 [Periódico revisado por pares]CELL PRESSTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)Okur, Ilyas ; Cleary, Maureen ; de Castro Lopez, Maria Jose ; Harmatz, Paul ; Lee, Joy ; Lin, Shaun-Pei ; Couce, Maria Luz ; Muschol, Nicole ; Peters, Heidi ; Villarreal, Martha Solano ; Shaywitz, Adam ; Cahan, Heather ; Grover, Anita ; Maricich, Stephen M. ; Melton, Andrew ; Smith, Lynn ; Ezgu, FatihMolecular genetics and metabolism, 2018-02, Vol.123 (2), p.S108-S109 [Periódico revisado por pares]Elsevier IncTexto completo disponível |