Pediatrics - Genetics

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Proteins Medicine & Life Sciences
Fibroblasts Medicine & Life Sciences
Cystinosis Medicine & Life Sciences
Cystine Medicine & Life Sciences
CHARGE Syndrome Medicine & Life Sciences

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Grants 1987 2021

Research Output 1979 2016

1 Citations

12th International CHARGE syndrome conference proceedings

Martin, D. M., Salem-Hartshorne, N., Hartshorne, T. S., Scacheri, P. C. & Hefner, M. A. Apr 1 2016 In : American Journal of Medical Genetics, Part A. 170, 4, p. 856-869 14 p.

Research output: Contribution to journalArticle

CHARGE Syndrome
Posters
Medical Education
Stem Cells
Education

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Ahmad, A. & 81 others Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C., Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S. Sep 1 2016 In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Newborn Infant
Inborn Errors Metabolism
Mutation
Health
Ring Chromosomes
Chromosomes, Human, Pair 15
Marfan Syndrome
Genetic Markers
Phenotype