Abnormalities, Multiple

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Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., … Vasileiou, G. (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine, 25(11), 100950. https://doi.org/10.1016/j.gim.2023.100950
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Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., … Isidor, B. (2023). Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics, 31(10), 1117–1124. https://doi.org/10.1038/s41431-023-01434-5
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Chai, G., Szenker-Ravi, E., Chung, C., Li, Z., Wang, L., Khatoo, M., Marshall, T., Jiang, N., Yang, X., McEvoy-Venneri, J., Stanley, V., Anzenberg, P., Lang, N., Wazny, V., Yu, J., Virshup, D. M., Nygaard, R., Mancia, F., Merdzanic, R., … Gleeson, J. G. (2021). A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. New England Journal of Medicine, 385(14), 1292–1301. https://doi.org/10.1056/nejmoa2033911
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