Projects per year
UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. Our work contributes towards the following SDG(s):
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Dive into the research topics where Pediatric Genetics & Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
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Profiles
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Susan A Berry, Professor
- Pediatric Genetics & Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliates
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Safety and efficacy of Nov340 delivery of SaRNA in treating MPS I disease
Whitley, C. B., Lund, T. C., Orchard, P. J. & Ou, L.
5/1/21 → 4/29/23
Project: Research project
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ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development
Subramanian, S., Biswas, A., Alves, C. A. P. F., Sudhakar, S. V., Shekdar, K. V., Krishnan, P., Shroff, M., Taranath, A., Arrigoni, F., Aldinger, K. A., Leventer, R. J., Dobyns, W. B. & Mankad, K., Jan 1 2022, In: American Journal of Neuroradiology. 43, 1, p. 146-150 5 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I
Braunlin, E., Abrahante, J. E., Mc Elmurry, R. T., Evans, M. D., Smith, M., Seelig, D., O'Sullivan, G., Tolar, J., Whitley, C. B. & McIvor, R. S., Mar 2022, In: Molecular Genetics and Metabolism. 135, 3, p. 193-205 13 p.Research output: Contribution to journal › Article › peer-review
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MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features
Pillai, N. R., Miller, D., Bronken, G., Salunke, A. K. & Aggarwal, A., Jul 2022, In: American Journal of Medical Genetics, Part A. 188, 7, p. 2231-2236 6 p.Research output: Contribution to journal › Article › peer-review
Open Access
Activities
- 1 Types of Award - Prize (including medals and awards)
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Doctoral Dissertation Fellowship
Li Ou (Recipient)
Sep 2015 → Aug 2016Activity: Other activity types › Types of Award - Prize (including medals and awards)
Prizes
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American Society of Gene and Cell Therapy Travel Award
Ou, L. (Recipient), May 2016
Prize: Prize (including medals and awards)
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Baosteel Fellowship for Excellent Students
Ou, L. (Recipient), 2009
Prize: Prize (including medals and awards)
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NIH Lysosomal Disease Network Fellow
Ou, L. (Recipient), 2015
Prize: Prize (including medals and awards)