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1دورية أكاديمية
المؤلفون: Hammarsjo, A, Pettersson, M, Chitayat, D, Handa, A, Anderlid, BM, Bartocci, M, Basel, D, Batkovskyte, D, Beleza-Meireles, A, Conner, P, Eisfeldt, J, Girisha, KM, Chung, BHY, Horemuzova, E, Hyodo, H, Kornejeva, L, Lagerstedt-Robinson, K, Lin, AE, Magnusson, M, Moosa, S, Nayak, SS, Nilsson, D, Ohashi, H, Ohashi-Fukuda, N, Stranneheim, H, Taylan, F, Traberg, R, Voss, U, Wirta, V, Nordgren, A, Nishimura, G, Lindstrand, A, Grigelioniene, G
المصدر: Journal of human genetics. 66(10):995-1008
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L
المصدر: Biological psychiatry. 85(4):287-297
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Kapferer-Seebacher, I, Pepin, M, Werner, R, Aitman, TJ, Nordgren, A, Stoiber, H, Thielens, N, Gaboriaud, C, Amberger, A, Schossig, A, Gruber, R, Giunta, C, Bamshad, M, Bjorck, E, Chen, C, Chitayat, D, Dorschner, M, Schmitt-Egenolf, M, Hale, CJ, Hanna, D, Hennies, HC, Heiss-Kisielewsky, I, Lindstrand, A, Lundberg, P, Mitchell, AL, Nickerson, DA, Reinstein, E, Rohrbach, M, Romani, N, Schmuth, M, Silver, R, Taylan, F, Vandersteen, A, Vandrovcova, J, Weerakkody, R, Yang, M, Pope, FM, Byers, PH, Zschocke, J
المصدر: American journal of human genetics. 99(5):1005-1014
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Cullinane, AR, Straatman-Iwanowska, A, Seo, JK, Ko, JS, Song, KS, Gizewska, M, Gruszfeld, D, Gliwicz, D, Tuysuz, B, Erdemir, G, Sougrat, R, Wakabayashi, Y, Hinds, R, Barnicoat, A, Mandel, H, Chitayat, D, Fischler, B, Garcia-Cazorla, A, Knisely, AS, Kelly, DA, Maher, ER, Gissen, P
المصدر: Human mutation. 30(2):E330-E337
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Scherer, SW, Cheung, J, MacDonald, JR, Osborne, LR, Nakabayashi, K, Herbrick, JA, Carson, AR, Parker-Katiraee, L, Skaug, J, Khaja, R, Zhang, JJ, Hudek, AK, Li, M, Haddad, M, Duggan, GE, Fernandez, BA, Kanematsu, E, Gentles, S, Christopoulos, CC, Choufani, S, Kwasnicka, D, Zheng, XQH, Lai, ZW, Nusskern, D, Zhang, Q, Gu, ZP, Lu, F, Zeesman, S, Nowaczyk, MJ, Teshima, I, Chitayat, D, Shuman, C, Weksberg, R, Zackai, EH, Grebe, TA, Cox, SR, Kirkpatrick, SJ, Rahman, N, Friedman, JM, Heng, HHQ, Pelicci, PG, Lo-Coco, F, Belloni, E, Shaffer, LG, Pober, B, Morton, CC, Gusella, JF, Bruns, GAP, Korf, BR, Quade, BJ, Ligon, AH, Ferguson, H, Higgins, AW, Leach, NT, Herrick, SR, Lemyre, E, Farra, CG, Kim, HG, Summers, AM, Gripp, KW, Roberts, W, Szatmari, P, Winsor, EJT, Grzeschik, KH, Teebi, A, Minassian, BA, Kere, J, Armengol, L, Pujana, MA, Estivill, X, Wilson, MD, Koop, BF, Tosi, S, Moore, GE, Boright, AP, Zlotorynski, E, Kerem, B, Kroisel, PM, Petek, E, Oscier, DG, Mould, SJ, Dohner, H, Dohner, K, Rommens, JM, Vincent, JB, Venter, JC, Li, PW, Mural, RJ, Adams, MD, Tsui, LC
المصدر: Science (New York, N.Y.). 300(5620):767-772
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Szakszon, K., Lourenco, C.M., Callewaert, B.L., Geneviève, D., Rouxel, F., Morin, D., Denommé-Pichon, A.S., Vitobello, A., Patterson, W.G., Louie, R., Pinto, E.V.F., Klee, E., Kaiwar, C., Gavrilova, R.H., Agre, K.E., Jacquemont, S., Khadijé, J., Giltay, J., Gassen, K. van, Merő, G., Gerkes, E., Bon, B.W.M. van, Rinne, T.K., Pfundt, R.P., Brunner, H.G., Caluseriu, O., Grasshoff, U., Kehrer, M., Haack, T.B., Khelifa, M.M., Bergmann, A.K., Cueto-González, A.M., Martorell, A.C., Ramachandrappa, S., Sawyer, L.B., Fasel, P., Braun, D., Isis, A., Superti-Furga, A., McNiven, V., Chitayat, D., Ahmed, Sara, Brennenstuhl, H., Schwaibolf, E.M., Battisti, G., Parmentier, B., Stevens, S.J.C.
المصدر: Journal of Medical Genetics, 61, 2, pp. 132-141
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1136/jmg-2022-109030Test
https://repository.ubn.ru.nl/handle/2066/305177Test -
7دورية أكاديمية
المؤلفون: Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, Schulte, B, Monaghan, KG, Begtrup, A, Torella, A, Pinelli, M, Denomme-Pichon, AS, Vitobello, A, Racine, C, Mancardi, MM, Kiss, C, Guerin, A, Wu, W, Vila, EG, Mak, BC, Martinez-Agosto, JA, Gorin, MB, Duz, B, Bayram, Y, Carvalho, CMB, Vengoechea, JE, Chitayat, D, Tan, TY, Callewaert, B, Kruse, B, Bird, LM, Faivre, L, Zollino, M, Biskup, S, Striano, P, Nigro, V, Severino, M, Capra, V, Costain, G, Nagata, K-I
العلاقة: pii: 6628315; Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. S., Vitobello, A., Racine, C., Mancardi, M. M. ,. Nagata, K. -I. (2022). Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. BRAIN, 145 (9), pp.3308-3327. https://doi.org/10.1093/brain/awac106Test.; http://hdl.handle.net/11343/318076Test
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8دورية 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 -
9دورية أكاديمية
المؤلفون: Bott, LC, Forouhan, M, Lieto, M, Sala, AJ, Ellerington, R, Johnson, JO, Speciale, AA, Criscuolo, C, Filla, A, Chitayat, D, Alkhunaizi, E, Shannon, P, Nemeth, AH, Angelucci, F, Lim, WF, Striano, P, Zara, F, Helbig, I, Muona, M, Courage, C, Lehesjoki, A-E, Berkovic, SF, Fischbeck, KH, Brancati, F, Morimoto, RI, Wood, MJA, Rinaldi, C
العلاقة: pii: fcab245; Bott, L. C., Forouhan, M., Lieto, M., Sala, A. J., Ellerington, R., Johnson, J. O., Speciale, A. A., Criscuolo, C., Filla, A., Chitayat, D., Alkhunaizi, E., Shannon, P., Nemeth, A. H., Angelucci, F., Lim, W. F., Striano, P., Zara, F., Helbig, I., Muona, M. ,. Rinaldi, C. (2021). Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. BRAIN COMMUNICATIONS, 3 (4), https://doi.org/10.1093/braincomms/fcab245Test.; http://hdl.handle.net/11343/307674Test
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10دورية أكاديمية
المؤلفون: Talenti, G, Robson, C, Severino, MS, Alves, CA, Chitayat, D, Dahmoush, H, Smith, L, Muntoni, F, Blaser, SI, D'Arco, F
المصدر: American Journal of Neuroradiology , 42 (1) pp. 167-172. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10138124/1/167.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10138124Test/
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