Infant, Newborn, Diseases

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O’Shea, D., Schmoke, N., Porigow, C., Murray, L. P., Chung, W. K., Kattan, M., Jang, M., Antosy, A., Middlesworth, W., & Khlevner, J. (2023). Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review. Journal of Pediatric Gastroenterology & Nutrition, 77(6), 703–712. https://doi.org/10.1097/mpg.0000000000003952
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Stewart, L. A., Klein-Cloud, R., Gerall, C., Fan, W., Price, J., Hernan, R. R., Krishnan, U. S., Cheung, E. W., Middlesworth, W., Chaves, D. V., Miller, R., Simpson, L. L., Chung, W. K., & Duron, V. P. (2022). Extracorporeal Membrane Oxygenation (ECMO) and its complications in newborns with congenital diaphragmatic hernia. Journal of Pediatric Surgery, 57(8), 1642–1648. https://doi.org/10.1016/j.jpedsurg.2021.12.028
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Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., … Weckhuysen, S. (2022). KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. EBioMedicine, 81, 104130. https://doi.org/10.1016/j.ebiom.2022.104130
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Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane‐Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D’Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., McKee, S., … Dyment, D. A. (2022). Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American Journal of Medical Genetics Part A, 188(6), 1667–1675. Portico. https://doi.org/10.1002/ajmg.a.62673
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