المؤلفون: Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z. X., Lim, C. Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Jr., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Chen, J. Y., Dredge, D., Pier, D., Wortmann, S., Kamsteeg, E. J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A. S., Weber, S., Pérez de la Fuente, R., Sánchez Del Pozo, J., Lezana Rosales, J. M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk Ø, L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J., Stessman, H. A. F.

مصطلحات موضوعية: Humans, Mice, Animals, Haploinsufficiency, Neurodevelopmental Disorders/genetics, Knockout, Megalencephaly, Methyltransferases/genetics, Phenotype

العلاقة: Sci Adv. 2023 Mar 10;9(10):eade1463. doi:10.1126/sciadv.ade1463. Epub 2023 Mar 10.; Science advances; PMC10005179; https://hdl.handle.net/11287/622857Test

الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://hdl.handle.net/11287/622857Test

المؤلفون: Bestetti I., Crippa M., Sironi A., Tumiatti F., Masciadri M., Smeland M. F., Naik S., Murch O., Bonati M. T., Spano A., Cattaneo E., Mariani M., Gotta F., Crosti F., Cavalli P., Pantaleoni C., Natacci F., Bedeschi M. F., Milani D., Maitz S., Selicorni A., Spaccini L., Peron A., Russo S., Larizza L., Low K., Finelli P.

المساهمون: I. Bestetti, M. Crippa, A. Sironi, F. Tumiatti, M. Masciadri, M.F. Smeland, S. Naik, O. Murch, M.T. Bonati, A. Spano, E. Cattaneo, M. Mariani, F. Gotta, F. Crosti, P. Cavalli, C. Pantaleoni, F. Natacci, M.F. Bedeschi, D. Milani, S. Maitz, A. Selicorni, L. Spaccini, A. Peron, S. Russo, L. Larizza, K. Low, P. Finelli

مصطلحات موضوعية: ANKRD11 gene expression analysi, ANKRD11 variation, KBG syndrome, diagnostic flow chart, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35682590; info:eu-repo/semantics/altIdentifier/wos/WOS:000809958000001; volume:23; issue:11; firstpage:1; lastpage:16; numberofpages:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/963159Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130794381

الإتاحة: https://doi.org/10.3390/ijms23115912Test
https://hdl.handle.net/2434/963159Test

المؤلفون: Blomqvist, Maria K., 1975, Smeland, M. F., Lindgren, J., Sikora, P., Stensland, Hmfr, Asin-Cayuela, Jorge

المصدر: Cold Spring Harbor Molecular Case Studies. 5(3)

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, angiokeratoma-corporis-diffusum, deficiency, identification, fibroblasts, metabolism, leukocytes, mutation, variant, cdna

الوصول الحر: https://gup.ub.gu.se/publication/281649Test