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Dive into the research topics where Eva Morava-Kozicz is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
- 1 Active
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Frontiers in Congenital Disorders of Glycosylation
Morava-Kozicz, E., Dasari, S., Freeze, H. H., Kozicz, L. T. & Lam, C.
9/15/19 → 7/31/24
Project: Research project
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A complement C4–derived glycopeptide is a biomarker for PMM2-CDG
Garapati, K., Budhraja, R., Saraswat, M., Kim, J., Joshi, N., Sachdeva, G. S., Jain, A., Ligezka, A. N., Radenkovic, S., Ramarajan, M. G., Udainiya, S., Raymond, K., He, M., Lam, C., Larson, A., Edmondson, A. C., Sarafoglou, K., Larson, N. B., Freeze, H. H., Schultz, M. J., & 3 others , 2024, In: JCI Insight. 9, 7, e172509.Research output: Contribution to journal › Article › peer-review
Open Access -
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
Undiagnosed Diseases Network, Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.Research output: Contribution to journal › Article › peer-review
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Deciphering Developmental Disorders, Genomics England Research Consortium & Undiagnosed Disease Network, Feb 2024, In: Genetics in Medicine. 26, 2, 101023.Research output: Contribution to journal › Article › peer-review
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities
Undiagnosed Diseases Network, Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.Research output: Contribution to journal › Article › peer-review
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De novo variants in DENND5B cause a neurodevelopmental disorder
Undiagnosed Diseases Network, Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.Research output: Contribution to journal › Article › peer-review
Open Access