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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
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DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

Campeau, Philippe M. ; Hennekam, Raoul C.

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.327-332

United States: Blackwell Publishing Ltd

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2
Defense Acquisitions: DoD's Cybersecurity Maturity Model Certification Framework
Defense Acquisitions: DoD's Cybersecurity Maturity Model Certification Framework
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Defense Acquisitions: DoD's Cybersecurity Maturity Model Certification Framework

Peters, Heidi M

Defense AR journal, 2022-04, Vol.29 (2), p.178

Defense Acquisition University Press

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3
Department of Defense Use of Other Transaction Authority: Background, Analysis, and Issues for Congress
Department of Defense Use of Other Transaction Authority: Background, Analysis, and Issues for Congress
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Department of Defense Use of Other Transaction Authority: Background, Analysis, and Issues for Congress

Schwartz, Moshe ; Peters, Heidi M

Defense AR journal, 2020-01, Vol.27 (1), p.114-114

Fort Belvoir: Superintendent of Documents

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4
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome
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Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Woodcock, 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, PhD

Seminars in pediatric neurology, 2018-07, Vol.26, p.2-9 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Van 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 J

International journal of molecular sciences, 2022-01, Vol.23 (2), p.986 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Ng, 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 Ltd

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7
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector
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Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

Wong, Edward S Y ; McIntyre, Chantelle ; Peters, Heidi L ; Ranieri, Enzo ; Anson, Donald S ; Fletcher, Janice M

Human gene therapy, 2014-06, Vol.25 (6), p.529-538 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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8
POLG mutations and Alpers syndrome
POLG mutations and Alpers syndrome
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POLG mutations and Alpers syndrome

Davidzon, Guido ; Mancuso, Michelangelo ; Ferraris, Silvio ; Quinzii, Catarina ; Hirano, Michio ; Peters, Heidi L. ; Kirby, Denise ; Thorburn, David R. ; DiMauro, Salvatore

Annals of neurology, 2005-06, Vol.57 (6), p.921-923 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality
A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality
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A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality

Peters, Heidi ; Nefedov, Mikhail ; Sarsero, Joseph ; Pitt, James ; Fowler, Kerry J. ; Gazeas, Sophie ; Kahler, Stephen G. ; Ioannou, Panayiotis A.

The Journal of biological chemistry, 2003-12, Vol.278 (52), p.52909-52913 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tan, Tiong Yang ; Dillon, Oliver James ; Stark, Zornitza ; Schofield, Deborah ; Alam, Khurshid ; Shrestha, Rupendra ; Chong, Belinda ; Phelan, Dean ; Brett, Gemma R ; Creed, Emma ; Jarmolowicz, Anna ; Yap, Patrick ; Walsh, Maie ; Downie, Lilian ; Amor, David J ; Savarirayan, Ravi ; McGillivray, George ; Yeung, Alison ; Peters, Heidi ; Robertson, Susan J ; Robinson, Aaron J ; Macciocca, Ivan ; Sadedin, Simon ; Bell, Katrina ; Oshlack, Alicia ; Georgeson, Peter ; Thorne, Natalie ; Gaff, Clara ; White, Susan M

JAMA pediatrics, 2017-09, Vol.171 (9), p.855-862 [Periódico revisado por pares]

United States: American Medical Association

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