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Dive into the research topics where Anjali Aggarwal is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects and Grants
- 1 Active
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Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
ULTRAGENYX PHARMACEUTICAL INC.
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., Jolín García, P. C., 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. 33, 100931.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
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
1 Scopus citations -
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
6 Scopus citations