المؤلفون: von der Lippe, C., Tveten, K., Prescott, T. E., Holla Ø, L., Busk Ø, L., Burke, K. B., Sansbury, F. H., Baptista, J., Fry, A. E., Lim, D., Jolles, S., Evans, J., Osio, D., Macmillan, C., Bruno, I., Faltera, F., Climent, S., Urreitzi, R., Hoenicka, J., Palau, F., Cohen, A. S. A., Engleman, K., Zhou, D., Amudhavalli, S. M., Jeanne, M., Bonnet-Brilhault, F., Lévy, J., Drunat, S., Derive, N., Haug, M. G., Thorstensen, W. M.

مصطلحات موضوعية: Zbtb7a, developmental delay, intellectual disability, macrocephaly, pharyngeal lymphoid hypertrophy, whole exome sequencing

العلاقة: https://doi.org/10.1002/ajmg.a.62492Test; Am J Med Genet A. 2021 Sep 13. doi:10.1002/ajmg.a.62492.; https://rde.dspace-express.com/handle/11287/622129Test; American journal of medical genetics. Part A

الإتاحة: https://doi.org/10.1002/ajmg.a.62492Test
https://rde.dspace-express.com/handle/11287/622129Test

المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.

المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.

مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.001Test
http://hdl.handle.net/11571/1451931Test

المؤلفون: Voisin, N., Schnur, R., Douzgou , S., Hiatt, S., Rustad, C., Brown, N., Earl, D., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson , D., Zarate, Y., Hančárová, M., Amor, D., Bebin, E., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkölbl, A., Funari, T., Giannuzzi , G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, Ø., Hurst, A., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalová, D., Rhodes, L., Sanders , V., Sedláček, Z., Seebacher , H., Sellars, E., Sirchia, F., Takenouchi, T., Tanaka, A., Taska-Tench, H., Tønne, E., Tveten, K., Vitiello, G., Vlčková , M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W., Reymond, A.

المصدر: The American Journal of Human Genetics

العلاقة: http://hdl.handle.net/21.11116/0000-0008-AFCB-FTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.001Test
http://hdl.handle.net/21.11116/0000-0008-AFCB-FTest

المؤلفون: Tveten, K., Holla, O. L., Cameron, J., Strom, T. B., Berge, K. E., Laerdahl, J. K., Leren, T. P.

المصدر: Human Molecular Genetics ; volume 21, issue 6, page 1402-1409 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddr578Test
http://academic.oup.com/hmg/article-pdf/21/6/1402/1493485/ddr578.pdfTest

المؤلفون: Cameron, J., Holla, Ø. L., Laerdahl, J. K., Kulseth, M. A., Ranheim, T., Rognes, T., Berge, K. E., Leren, T. P.

المصدر: Journal of Internal Medicine ; volume 263, issue 4, page 420-431 ; ISSN 0954-6820 1365-2796

الإتاحة: https://doi.org/10.1111/j.1365-2796.2007.01915.xTest

المؤلفون: Holla, Ø. L., Cameron, J., Berge, K. E., Kulseth, M. A., Ranheim, T., Leren, T. P.

المصدر: Scandinavian Journal of Clinical and Laboratory Investigation ; volume 66, issue 4, page 317-328 ; ISSN 0036-5513 1502-7686

الإتاحة: https://doi.org/10.1080/00365510600672775Test