نتائج البحث

1

دورية أكاديمية

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistiene, L., Coon, H., Delot, E.C., Demurger, F., Denomme-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kucinskas, V., Kuechler, A., Lavillaureix, A., Liu, P.F., Fisher, Simon E.

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A J M , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S M , Banka , S , Bena , F S , Ben-Zeev , B , Bonagura , V R , Bruel , A L , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistiene , L , Coon , H , Delot , E C , Demurger , F , Denomme-Pichon , A S ....

مصطلحات موضوعية: MISSENSE MUTATIONS, BINDING PROTEIN, EXPRESSION, INTERLEUKIN-2, CHROMATIN, REGION, GENES

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://cris.maastrichtuniversity.nl/en/publications/e49bdbbc-76c5-4fd5-ba44-8898c9f6a550Test

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2

دورية أكاديمية

Progressive development of ocean anoxia in the end-Permian pelagic Panthalassa

المؤلفون: Takahashi, S, Hori, RS, Yamakita, S, Aita, Y, Takemura, A, Ikehara, M, Xiong, Y, Poulton, SW, Wignall, PB, Itai, T, Campbell, HJ, Spörli, BK

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/178489/3/Takahashi%20GPC%20accepted.pdfTest; https://eprints.whiterose.ac.uk/178489/2/Figures%2020210901.pdfTest; Takahashi, S, Hori, RS, Yamakita, S et al. (9 more authors) (2021) Progressive development of ocean anoxia in the end-Permian pelagic Panthalassa. Global and Planetary Change, 207. 103650. ISSN 0921-8181

الإتاحة: https://eprints.whiterose.ac.uk/178489Test/
https://eprints.whiterose.ac.uk/178489/3/Takahashi%20GPC%20accepted.pdfTest
https://eprints.whiterose.ac.uk/178489/2/Figures%2020210901.pdfTest

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3

دورية أكاديمية

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

المؤلفون: Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M.

المصدر: American Journal of Human Genetics, 108, 2, pp. 346-356

مصطلحات موضوعية: Neuroinformatics, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest; https://hdl.handle.net/2066/231687Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://hdl.handle.net/2066/231687Test
https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest

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4

دورية أكاديمية

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

المصدر: Hum. Mutat. 42, 66-76 (2021)

مصطلحات موضوعية: Autistic Features, Celf2, De Novo Variant, Developmental And Epileptic Encephalopathy, Hypotonia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33131106; info:eu-repo/semantics/altIdentifier/wos/WOS:000587700000001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60596Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.24130Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60596Test

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