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1دورية أكاديمية
المؤلفون: Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., Wennekes, R., Stegmann, A. P. A., Reardon, W., Leenders, E. K. S. M., de Vries, B. B. A., Li, D., Zackai, E., Ragge, N., Lynch, S. A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A. P. M.
المصدر: Polla , D L , Bhoj , E J , Verheij , J B G M , Wassink-Ruiter , J S K , Reis , A , Deshpande , C , Gregor , A , Hill-Karfe , K , Vulto-van Silfhout , A T , Pfundt , R , Bongers , E M H F , Hakonarson , H , Berland , S , Gradek , G , Banka , S , Chandler , K , Gompertz , L , Huffels , S C , Stumpel , C T R M , Wennekes , R , Stegmann , A ....
مصطلحات موضوعية: FG SYNDROME, MENTAL-RETARDATION, MEDIATOR COMPLEX, OHDO SYNDROME, MUTATION, BLEPHAROPHIMOSIS, GENE, TRANSCRIPTION, DELINEATION, PHENOTYPE
الإتاحة: https://doi.org/10.1038/s41436-020-01040-6Test
https://cris.maastrichtuniversity.nl/en/publications/a2d99058-119a-41c1-9bb4-9aaf9783c686Test -
2دورية أكاديمية
المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.
المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.
مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test
الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test -
3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A
المساهمون: Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35772801; info:eu-repo/semantics/altIdentifier/wos/WOS:000892539700001; volume:43; issue:7; firstpage:1048; lastpage:1053; numberofpages:6; journal:AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY; https://hdl.handle.net/2318/1884400Test
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5دورية أكاديمية
المؤلفون: Alves, C. A. P. F., Sherbini, O., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., Kentros, C., D’Arco, F., Anyane-Yeboa, K., Catarino, C. B., Mercimek-Andrews, S., Denecke, Jannis, Lyons, M. J., Klopstock, Thomas, Bhoj, E. J., Bryant, L., Vanderver, A., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B.
المصدر: American journal of neuroradiology 43(7), 1048 - 1053 (2022). doi:10.3174/ajnr.A7555
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Brain: diagnostic imaging, Brain: pathology, Brain Neoplasms: diagnostic imaging, Brain Neoplasms: genetics, Brain Neoplasms: pathology, Child, Germ Cells: pathology, Histones: genetics, Humans, Male, Malformations of Cortical Development: pathology, Neurodevelopmental Disorders: pathology, Retrospective Studies
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35772801; info:eu-repo/semantics/altIdentifier/issn/0195-6108; info:eu-repo/semantics/altIdentifier/issn/1936-959X; https://pub.dzne.de/record/164828Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01272%22Test
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6
المؤلفون: Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Gréen, Anna, 1973, Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, Margarita, Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal
المصدر: Neurogenetics. 19(2):93-103
مصطلحات موضوعية: MED13L, Intellectual disability, Mediator complex, Cardiopathy
وصف الملف: print
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7دورية أكاديمية
المؤلفون: Smol, Thomas, Petit, Florence, Piton, Amelie, Keren, Boris, Sanlaville, Damien, Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, Elise, Bouquillon, Sonia, Boute-Benejean, Odile, Caumes, R., Chatron, Nicolas, Colson, Cindy, Coubes, C., Coutton, Charles, Devillard, Francoise, Dieux-Coeslier, Anne, Doco-Fenzy, Martine, Ewans, L. J., Faivre, Laurence, Fassi, E., Field, Michael, Fournier, C., Francannet, Christine, Genevieve, David, Giurgea, Irina, Goldenberg, Alice, Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, Bryan, Kuentz, Paul, Lapi, E., Le Meur, Nathalie, Lesca, Gaetan, Li, D., Marey, I., Mignot, Cyril, Nava, C., Nesbitt, A., Nicolas, Gael, Roche-Lestienne, Catherine, Roscioli, T., Satre, V., Santani, Avni B., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, Pascale, Picker-Minh, S., Thuillier, Caroline, Verloes, Alain, Vieville, Gaelle, Wenzel, M., Willems, M., Whalen, Sandra, Zarate, Yuri A., Ziegler, A., Manouvrier, Sylvie, Kalscheuer, Vera M., Gerard, Benedicte, Ghoumid, Jamal
المساهمون: Université de Lille
مصطلحات موضوعية: MED13L, Intellectual disability, Cardiopathy, Mediator complex
العلاقة: d07833b2-40f2-4890-b0d4-78fc7191191d; Neurogenetics; http://hdl.handle.net/20.500.12210/55395Test
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8دورية أكاديمية
المؤلفون: Mulchandani, S., Bhoj, E. J., Luo, M., Powell-Hamilton, N., Jenny, K., Gripp, K. W., Elbracht, M., Eggermann, T., Turner, Claire L., Temple, I. K., Mackay, D. J., Dubbs, H., Stevenson, D. A., Slattery, L., Zackai, E. H., Spinner, N. B., Krantz, I. D., Conlin, L. K.
العلاقة: http://dx.doi.org/10.1038/gim.2015.103Test; Genet Med. 2016 Apr;18(4):309-15.; http://hdl.handle.net/11287/594000Test; Genetics in medicine : official journal of the American College of Medical Genetics
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9كتاب
المؤلفون: Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M.
المصدر: JIMD Reports ; JIMD Reports, Volume 19 ; page 59-66 ; ISSN 2192-8304 2192-8312 ; ISBN 9783662461891 9783662461907
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10دورية أكاديمية
المؤلفون: Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M.
المصدر: Pediatrics Faculty Publications
النص الكامل