المؤلفون: Pablo, M.J., Pamplona, P., Haddad, M., Benavente, I., Latorre-Pellicer, A., Arnedo, M., Trujillano, L., Bueno-Lozano, G., Kerr, L.M., Huisman, S.A., Kaiser, F.J., Ramos, F., Kline, A.D., Pie, J., Puisac, B.

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/ES/DGA/B32-17R; info:eu-repo/grantAgreement/ES/FIS/PI19-01860; http://zaguan.unizar.es/record/108558

الاتاحة: http://zaguan.unizar.es/record/108558
https://doi.org/10.1186/s13023-021-02082-y

المؤلفون: Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P.G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J.E., Palmer, E.E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., Munnik, S.A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Gonçalves, A.R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J.L., Faivre, L., Riviere, J‐B, Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M.J., Douglas, G., Alexander, N., Buckley, M.F., Mark, P.R., Adès, L.C., Sandaradura, S.A., Lupski, J.R., Roscioli, T., Agrawal, P.B., Kline, A.D., Wang, K., Timmers, H.T.M., Lyon, G.J.

Relation: ispartof: Human Mutation spage 449 epage 464 issue 2 vol 41; WOS:000498296700001; https://doi.org/10.1002/humu.23936; 991005541396807891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Missense-variants-in-TAF1-and-developmental/991005541396807891; alma:61MUN_INST/bibs/991005541396807891

الاتاحة: https://doi.org/10.1002/humu.23936
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Missense-variants-in-TAF1-and-developmental/991005541396807891

المؤلفون: Connaughton, D.M., Dai, R., Owen, D.J., Marquez, J., Mann, N., Graham-Paquin, A.L., Nakayama, M., Coyaud, E., Laurent, E.M.N., St-Germain, J.R., Snijders-Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.H.W., Kolvenbach, C.M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T.M., Majmundar, A.J., Buerger, F., Onuchic-Whitford, A.C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Ven, A.T. van der, Rao, J., Ityel, H., Seltzsam, S., Rieke, J.M., Chen, J., Vivante, A., Hwang, D.Y., Kohl, S., Dworschak, G.C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S.T., Baum, M.A., Brilstra, E.H., Challman, T.D., Zyskind, J., Costin, C.E., Dipple, K.M., Duijkers, F.A., Ferguson, M., Fitzpatrick, D.R., Fick, R., Glass, I.A., Hulick, P.J., Kline, A.D., Krey, I., Kumar, S., Lu, W., Marco, E.J., Wentzensen, I.M., Fisher, S.E., Bouchard, M., Khokha, M.K., Shril, S., Hildebrandt, F.

المصدر: American Journal of Human Genetics; 727; 742; 0002-9297; 4; vol. 107; ~American Journal of Human Genetics~727~742~~~0002-9297~4~107~~

المؤلفون: Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P.G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J.E., Palmer, E.E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., Munnik, S.A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Gonçalves, A.R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J.L., Faivre, L., Riviere, J‐B, Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M.J., Douglas, G., Alexander, N., Buckley, M.F., Mark, P.R., Adès, L.C., Sandaradura, S.A., Lupski, J.R., Roscioli, T., Agrawal, P.B., Kline, A.D., Wang, K., Timmers, H.T.M., Lyon, G.J.

المصدر: Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P.G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J.E., Palmer, E.E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., Munnik, S.A., Dreyer, L., Baynam, G. , Ewans, L., Stark, Z., Lunke, S., Gonçalves, A.R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J.L., Faivre, L., Riviere, J‐B, Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M.J., Douglas, G., Alexander, N., Buckley, M.F., Mark, P.R., Adès, L.C., Sandaradura, ....

Relation: https://researchrepository.murdoch.edu.au/id/eprint/53466/; full_text_status:none

الاتاحة: https://researchrepository.murdoch.edu.au/id/eprint/53466/

المؤلفون: Kline, A.D., Moss, J.F., Selicorni, A., Bisgaard, A.M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, Jl, Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A, O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C.

المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72dda7662033c077666a24fd9297d355
http://zaguan.unizar.es/record/75698

المؤلفون: Snijders Blok, C., Madsen, E., Juusola, J., Gilissen, C.F., Baralle, D., Reijnders, M.R.F., Venselaar, H., Helsmoortel, C., Cho, M.T., Hoischen, A., Vissers, L.E., Koemans, T.S., Wissink, W.M., Eichler, E.E., Romano, C, Esch, H. Van, Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., Bon, B.W. van, Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B.L., Dijck, A. Van, Innes, A.M., Racher, H., Vermeer, S., Donato, N. Di, Rump, A., Tatton-Brown, K., Parker, M.J., Henderson, A., Lynch, S.A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S, Schieving, J., Giltay, J., Gassen, K.L. van, Schuurs-Hoeijmakers, J., Tan, P.L., Pediaditakis, I., Haas, S.A., Retterer, K., Reed, P., Monaghan, K.G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M.C., Stein, Q., Strauss, K.A., Brigatti, K.W., Keating, K., Burton, B.K., Kim, K.H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A.D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K.M., Roozendaal, K. van, Brunner, H.G., Chung, W.K., Kooy, R.F., Pfundt, R., Kalscheuer, V., Mehta, S.G., Katsanis, N., Kleefstra, T.

المصدر: American Journal of Human Genetics, 97, 2, pp. 343-52

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/153453/153453.pdf; http://hdl.handle.net/2066/153453

الاتاحة: http://hdl.handle.net/2066/153453
https://repository.ubn.ru.nl//bitstream/handle/2066/153453/153453.pdf
https://doi.org/10.1016/j.ajhg.2015.07.004

المؤلفون: Gil-Rodriguez, M.C., Deardorff, M.A., Ansari, M., Tan, C.A., Parenti, I., Baquero-Montoya, C., Ousager, L.B., Puisac, B., Hernandez-Marcos, M., Teresa-Rodrigo, M.E., Marcos-Alcalde, I., Wesselink, J.J., Lusa-Bernal, S., Bijlsma, E.K., Braunholz, D., Bueno-Martinez, I., Clark, D., Cooper, N.S., Curry, C.J., Fisher, R., Fryer, A., Ganesh, J., Gervasini, C., Gillessen-Kaesbach, G., Guo, Y., Hakonarson, H., Hopkin, R.J., Kaur, M., Keating, B.J., Kibaek, M., Kinning, E., Kleefstra, T., Kline, A.D., Kuchinskaya, E., Larizza, L., Li, Y.R., Liu, X., Mariani, M., Picker, J.D., Pie, A., Pozojevic, J., Queralt, E., Richer, J., Roeder, E., Sinha, A., Scott, R.H., So, J., Wusik, K.A., Wilson, L., Zhang, J., Gomez-Puertas, P., Casale, C.H., Strom, L., Selicorni, A., Ramos, F.J., Jackson, L.G., Krantz, I.D., Das, S., Hennekam, R.C., Kaiser, F.J., FitzPatrick, D.R., Pie, J.

المصدر: Human Mutation, 36, 4, pp. 454-62

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/154932

الاتاحة: http://hdl.handle.net/2066/154932
https://doi.org/10.1002/humu.22761

المؤلفون: Kerr, LM, Jones, A., Kline, A.D., Fischer, P.R.

المصدر: Autonomic Neuroscience ; volume 192, page 134 ; ISSN 1566-0702

الاتاحة: http://dx.doi.org/10.1016/j.autneu.2015.07.432
https://api.elsevier.com/content/article/PII:S1566070215005007?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1566070215005007?httpAccept=text/plain

المؤلفون: Kaiser, F.J., Ansari, M., Braunholz, D., Concepcion Gil-Rodriguez, M., Decroos, C., Wilde, J.J., Fincher, C.T., Kaur, M., Bando, M., Amor, D.J., Atwal, P.S., Bahlo, M., Bowman, C.M., Bradley, J.J., Brunner, H.G., Clark, D., Campo, M. del, Donato, N. Di, Diakumis, P., Dubbs, H., Dyment, D.A., Eckhold, J., Ernst, S., Ferreira, J.C., Francey, L.J., Gehlken, U., Guillen-Navarro, E., Gyftodimou, Y., Hall, B.D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J.M., Yntema, H.G., Innes, A.M., Kline, A.D., Krumina, Z., Lee, H. van der, Leppig, K., Lynch, S.A., Mallozzi, M.B., Mannini, L., McKee, S., Mehta, S.G., Micule, I., Mohammed, S., Moran, E., Mortier, G.R., Moser, J.A., Noon, S.E., Nozaki, N., Nunes, L., Pappas, J.G., Penney, L.S., Perez-Aytes, A., Petersen, M.B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A.E., Schindeler, K.L., Siu, V.M., Stark, Z., Strom, S.P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L.C., Baylor-Hopkins Mendelian, G., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F.J., Jackson, L.G., Shirahige, K., Pie, J., Christianson, D.W., Krantz, I.D., FitzPatrick, D.R., Deardorff, M.A.

المصدر: Human Molecular Genetics, 23, 11, pp. 2888-900

مصطلحات موضوعية: Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/137378/137378.pdf; http://hdl.handle.net/2066/137378

الاتاحة: http://hdl.handle.net/2066/137378
https://repository.ubn.ru.nl//bitstream/handle/2066/137378/137378.pdf
https://doi.org/10.1093/hmg/ddu002

المؤلفون: Justice, R.M., Kline, A.D., Sluka, J.P., Roeder, W.D., Rodgers, G.H., Roehm, N., Mynderse, J.S.

المصدر: Biochemical and Biophysical Research Communications ; volume 171, issue 1, page 445-450 ; ISSN 0006-291X

الاتاحة: http://dx.doi.org/10.1016/0006-291x(90)91413-m
https://api.elsevier.com/content/article/PII:0006291X9091413M?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:0006291X9091413M?httpAccept=text/plain

المؤلفون: Hurdal, M.K., Gutierrez, J.B., Laing, C., Kline, A.D., Smith, D.A.

المصدر: 2008 15th IEEE International Conference on Image Processing; 2008, p1156-1159, 4p