Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
- Belinda Galeano
- Riko Klootwijk
- et al.
- 2007
- Journal of Clinical Investigation
Publications
1856 results for Impact Science
How can the emerging patient-centric health records lower costs in pharmacogenomics?
- Amnon Shabo
- 2007
- Pharmacogenomics
A 23-dBm 60-GHz distributed active transformer in a silicon process technology
- Ullrich R. Pfeiffer
- David Goren
- 2007
- IEEE T-MTT
A single nucleotide polymorphism in the MDM2 gene disrupts the oscillation of p53 and MDM2 levels in cells
- Wenwei Hu
- Zhaohui Feng
- et al.
- 2007
- Cancer Research
Subject-adaptive real-time sleep stage classification based on conditional random field.
- Gang Luo
- Wanli Min
- 2007
- AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
A standards-based solution for public health reporting and surveillance.
- Sarah E Knoop
- Roni Ram
- et al.
- 2007
- AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
IMIA presidential retrospectives on medical informatics.
- M.J. Ball
- J.H. van Bemmel
- et al.
- 2007
- Yearbook of Medical Informatics
Comparison of Amersham and Agilent microarray technologies through quantitative noise analysis
- G.A. Held
- Keith Duggar
- et al.
- 2006
- OMICS A Journal of Integrative Biology
Characterizing normal and abnormal cardiac echo motion patterns
- T. Syeda-Mahmood
- J. Yang
- 2006
- CinC 2006
Microwave detection and mixing in metallic single wall carbon nanotubes and potential for a new terahertz detector
- K.S. Yngvesson
- F. Rodriguez-Morales
- et al.
- 2006
- ISSTT 2006