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1دورية أكاديميةLessons from two series by physicians and caregivers' self-reported data in DDX3X -related disorders
المؤلفون: Ruault, V., Burger, P., Gradels-Hauguel, J., Ruiz, N., Jamra, R. A., Afenjar, A., Alembik, Y., Alessandri, J. L., Arpin, S., Barcia, G., Bendova, S., Bruel, A. L., Charles, P., Chatron, N., Chopra, M., Conrad, S., Daire, V. C., Cospain, A., Coubes, C., Coursimault, J., Delahaye-Duriez, A., Doco, M., Dufour, W., Durand, B., Engel, C., Faivre, L., Ferroul, F., Fradin, M., Frenkiel, H., Fusco, C., Garavelli, L., Garde, A., Gerard, B., Germanaud, D., Goujon, L., Gouronc, A., Ginglinger, E., Goldenberg, A., Hancarova, M., Havlovicova, M., Heron, D., Isidor, B., Marcais, N. J., Keren, B., Koch-Hogrebe, M., Kuentz, P., Lamure, V., Lebre, A. S., Lecoquierre, F., Lehman, N., Lesca, G., Lyonnet, S., Martin, D., Mignot, C., Neuhann, T. M., Nicolas, G., Nizon, M., Petit, Florence, Philippe, C., Piton, A., Pollazzon, M., Prchalova, D., Putoux, A., Rio, M., Rondeau, S., Rossi, M., Sabbagh, Q., Saugier-Veber, P., Schmetz, A., Steffann, J., Thauvin-Robinet, C., Toutain, A., Them, F. T. M., Trimarchi, G., Vincent, M., Vlckova, M., Wieczorek, D., Willems, M., Yauy, K., Zelinova, M., Ziegler, A., Chaumette, B., Sadikovic, B., Mandel, J. L., Genevieve, D.
المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
مصطلحات موضوعية: developmental milestones, DDX3X, caregivers, ADHD
العلاقة: Mol. Genet. Genom. Med.; http://hdl.handle.net/20.500.12210/109673Test
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2دورية أكاديمية
المؤلفون: Haijes, H, Koster, M, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G, Lehman, A, Van De Laar, I, Tesselaar, C, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A, Kini, U, Vos, H, Van Es, R, Van Schaik, R, Van Essen, T, Kibaek, M, Taylor, J, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D, Van Gassen, K, Pfundt, R, Falk, M, McCormick, E, Timmers, H, Van Hasselt, P
العلاقة: https://ora.ox.ac.uk/objects/uuid:a38bf334-3015-4933-8183-455bc0548681Test; https://doi.org/10.1016/j.ajhg.2019.06.016Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.06.016Test
https://ora.ox.ac.uk/objects/uuid:a38bf334-3015-4933-8183-455bc0548681Test -
3دورية أكاديمية
المؤلفون: Tupec, M., Buček, A., Janoušek, V., Vogel, H., Prchalová, D., Kindl, J., Pavlíčková, T., Wenzelová, P., Jahn, U., Valterová, I., Pichová, I.
المصدر: eLife
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0002-EB33-CTest; http://hdl.handle.net/21.11116/0000-0002-F80E-8Test
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديمية
المؤلفون: Brabcová, J., Prchalová, D., Demianová, Z., Bučánková, A., Vogel, H., Valterová, I., Pichová, I., Zarevúcka, M.
المصدر: PLoS One
وصف الملف: application/pdf; application/zip
العلاقة: http://hdl.handle.net/11858/00-001M-0000-0014-B2DD-8Test; http://hdl.handle.net/11858/00-001M-0000-0014-B2DF-4Test; http://hdl.handle.net/21.11116/0000-0004-5708-2Test
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7دورية أكاديمية
المؤلفون: Haijes, HA, Koster, MJE, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, De Graaf - van de Laar, Ingrid, Tesselaar, CD, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalova, D, Havlovicova, M, Vlckova, M, Sedlacek, Z, Lopez, E, Ragoussis, V, Pagnamenta, AT, Kini, U, Vos, HR, van Es, RM, Schaik, R, van Essen, TAJ, Kibaek, M, Taylor, JC, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, DM, van Gassen, K L I, Pfundt, R, Falk, MJ, McCormick, E M, Timmers, HTM, van Hasselt, PM
المصدر: Haijes , HA , Koster , MJE , Rehmann , H , Li , D , Hakonarson , H , Cappuccio , G , Hancarova , M , Lehalle , D , Reardon , W , Schaefer , G B , Lehman , A , De Graaf - van de Laar , I , Tesselaar , CD , Turner , C , Goldenberg , A , Patrier , S , Thevenon , J , Pinelli , M , Brunetti-Pierri , N , Prchalova , D , Havlovicova , M , Vlckova , M , Sedlacek , Z , Lopez ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.06.016Test
https://pure.eur.nl/en/publications/5ecb9217-cdd5-49be-8eb3-5af7b8bc4b06Test
http://hdl.handle.net/1765/118494Test -
8دورية أكاديمية
المؤلفون: Chehadeh, S. El, Kerstjens-Frederikse, W.S., Thevenon, J., Kuentz, P., Bruel, A.L., Thauvin-Robinet, C., Bensignor, C., Dollfus, H., Laugel, V., Riviere, J.B., Duffourd, Y., Bonnet, C., Robert, M.P., Isaiko, R., Straub, M., Creuzot-Garcher, C., Calvas, P., Chassaing, N., Loeys, B., Reyniers, E., Vandeweyer, G., Kooy, F., Hancarova, M., Havlovicova, M., Prchalova, D., Sedlacek, Z., Gilissen, C.F., Pfundt, R.P., Wassink-Ruiter, J.S., Faivre, L.
المصدر: European Journal of Human Genetics, 25, 1, pp. 43-51
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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9دورية أكاديمية
المؤلفون: Buček, A., Brabcová, J., Vogel, H., Prchalová, D., Kindl, J., Valterová, I., Pichová, I.
المساهمون: Ministry of Education
المصدر: Insect Molecular Biology ; volume 25, issue 3, page 295-314 ; ISSN 0962-1075 1365-2583
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10دورية أكاديمية
المؤلفون: Bucek, A., Vogel, H., Matousková, P., Prchalová, D., Zácek, P., Vrkoslav, V., Sebesta, P., Svatoš, A., Jahn, U., Valterová, I., Pichová, I.
المصدر: Insect Biochemistry and Molecular Biology
وصف الملف: application/pdf; application/zip
العلاقة: http://hdl.handle.net/11858/00-001M-0000-0014-168E-2Test; http://hdl.handle.net/11858/00-001M-0000-0014-16A0-5Test; http://hdl.handle.net/21.11116/0000-0004-4D90-3Test