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Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.

Autor: Corre, Camille S., Matern, Dietrich, Pellegrino, Joan E., Saavedra-Matiz, Carlos A., Orsini, Joseph J., Thompson-Stone, Robert

Publikováno v: International Journal of Neonatal Screening (IJNS); Jun2021, Vol. 7 Issue 2, p1-7, 7p

Measurement Science for Prognostics and Health Management for Smart Manufacturing Systems: Key Findings from a Roadmapping Workshop

Autor: Weiss, Brian A., Vogl, Gregory, Helu, Moneer, Qiao, Guixiu, Pellegrino, Joan, Justiniano, Mauricio, Raghunathan, Anand

Publikováno v: Proceedings of the Annual Conference of the Prognostics and Health Management Society. Prognostics and Health Management Society. Conference

The National Institute of Standards and Technology (NIST) hosted the Roadmapping Workshop – Measurement Science for Prognostics and Health Management for Smart Manufacturing Systems (PHM4SMS) in Fall 2014 to discuss the needs and priorities of stak

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::94bf87b97a6c5ddb3f112c86ecb4970c
http://europepmc.org/articles/PMC5485851

Myoclonus-Dystonia Syndrome Associated with Russell Silver Syndrome

Autor: Augustine, Erika F., Blackburn, Joanna, Pellegrino, Joan E., Miller, Ryan, Mink, Jonathan W.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6e20d2c96fb4ae55bb43737b7183d660
https://europepmc.org/articles/PMC4643854/

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Autor: Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.

Publikováno v: JIMD Reports; 2015, p29-37, 9p