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Expertise related to 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. This person’s work contributes towards the following SDG(s):
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The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Projects
- 1 Active
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Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
8/3/21 → 8/31/26
Project: Research project
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Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Dailey, C., Oshodi, R. B., Boull, C. & Aggarwal, A., Nov 2022, In: European Journal of Medical Genetics. 65, 11, 104607.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations -
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
Priestley, J. R. C., Pace, L. M., Sen, K., Aggarwal, A., Alves, C. A. P. F., Campbell, I. M., Cuddapah, S. R., Engelhardt, N. M., Eskandar, M., García, P. C. J., Gropman, A., Helbig, I., Hong, X., Gowda, V. K., Lusk, L., Trapane, P., Srinivasan, V. M., Suwannarat, P. & Ganetzky, R. D., Dec 2022, In: Molecular Genetics and Metabolism Reports.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 -
Ophthalmic Findings Associated with NEDD4L-related Disorder
Santilli, C., Aggarwal, A., Dailey, C. & McClelland, C., Jun 2022, In: Journal of AAPOS. 26, 3, p. 164-167 4 p.Research output: Contribution to journal › Article › peer-review
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Phenotype-autosomal recessive osteopetrosis
Pillai, N. R., Aggarwal, A. & Orchard, P., Dec 2022, In: Bone. 165, 116577.Research output: Contribution to journal › Article › peer-review
2 Scopus citations