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المؤلفون: Nguyen, L S^{Aff1, Aff2}, Jolly, L, Shoubridge, C^{Aff1, Aff2}, Chan, W K, Huang, L, Laumonnier, F^{Aff5, Aff6, Aff7}, Raynaud, M^{Aff5, Aff7, Aff8}, Hackett, A, Field, M, Rodriguez, J, Srivastava, A K, Lee, Y, Long, R, Addington, A M, Rapoport, J L, Suren, S, Hahn, C N, Gamble, J, Wilkinson, M F, Corbett, M A, Gecz, J^{Aff1, Aff2, IDmp2011163_cor21}

المصدر: Molecular Psychiatry. 17(11):1103-1115

المؤلفون: Laumonnier, F^{Aff1, Aff2, Aff3, IDmp200914_cor1}, Shoubridge, C, Antar, C^{Aff1, Aff2, Aff3, Aff5}, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S^{Aff1, Aff2, Aff3, Aff8}, Fryns, J P, Hamel, B, Chelly, J, Ropers, H H, Ronce, N^{Aff1, Aff2, Aff3, Aff5}, Blesson, S, Moraine, C^{Aff1, Aff2, Aff4}, Gécz, J^{Aff4, Aff11, Aff12}, Raynaud, M^{Aff1, Aff2, Aff3, Aff5}

المصدر: Molecular Psychiatry. 15(7):767-776

المؤلفون: Padula, A., Poeta, L., Shoubridge, C., Valentino, M., Attianese, B., Vanbokhoven, H., Filosa, S., Gecz, J., Altucci, L., Miano, M.

المصدر: European journal of human genetics 26 (2018): 350–351.
info:cnr-pdr/source/autori:Padula, A.; Poeta, L.; Shoubridge, C.; Valentino, M.; Attianese, B.; vanBokhoven, H.; Filosa, S.; Gecz, J.; Altucci, L.; Miano, M./titolo:Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model"/doi:/rivista:European journal of human genetics/anno:2018/pagina_da:350/pagina_a:351/intervallo_pagine:350–351/volume:26
Web of Science

مصطلحات موضوعية: KDM5C-H3K4me3 deregulation, ARX

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e554ae2801a141fc49e5dcdec2d21d01
http://www.cnr.it/prodotto/i/434892

المؤلفون: Poeta L, Padula A, Tuccillo M, Filosa S, Cervicato G, Shoubridge C, Zucchelli S, Gecz J, Gustincich S, Miano MG

المصدر: 9th International Workshop on Unstable microsatellite in human diseases (UMHD9), Capri, Naples, Italy, 21-26 April, 2018
info:cnr-pdr/source/autori:Poeta L, Padula A, Tuccillo M, Filosa S, Cervicato G, Shoubridge C, Zucchelli S, Gecz J, Gustincich S, Miano MG/congresso_nome:9th International Workshop on Unstable microsatellite in human diseases (UMHD9)/congresso_luogo:Capri, Naples, Italy/congresso_data:21-26 April, 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: trinucleotide (GCN) repeats, non coding RNA (lncRNA), ARX

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::295ce4c8893ea81c8c52adbc7aa48197
http://www.cnr.it/prodotto/i/434906

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المؤلفون: Padula A, Poeta L, Ranieri A, Attianese B, Valentino M, Shoubridge C, Helin K, Gecz J, Di Schiavi E, Filosa S, Schwartz C, Altucci L, vanBokhoven H, Miano MG

المصدر: 66th American Society of Human Genetics, ASHG, Vancouver, Canada, October 18-22, 2016
info:cnr-pdr/source/autori:Padula A, Poeta L, Ranieri A, Attianese B, Valentino M, Shoubridge C, Helin K, Gecz J, Di Schiavi E, Filosa S, Schwartz C, Altucci L, vanBokhoven H, Miano MG/congresso_nome:66th American Society of Human Genetics, ASHG/congresso_luogo:Vancouver, Canada/congresso_data:October 18-22, 2016/anno:2016/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: XLID, KDM5C, epilepsy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::a4b6d415f2ad0940c2bdd0c67c384b29
https://publications.cnr.it/doc/434911

المؤلفون: Padula A, Poeta L, Shoubridge C, Ranieri A, Helin K, Gecz J, Schwartz C, Ursini MV, vanBokhoven H, Miano MG

المصدر: The European Society of Human Genetics (ESHG), Glasgow, Scotland, UK, June 6-9 2015
info:cnr-pdr/source/autori:Padula A, Poeta L, Shoubridge C, Ranieri A, Helin K, Gecz J, Schwartz C, Ursini MV, vanBokhoven H, Miano MG/congresso_nome:The European Society of Human Genetics (ESHG)/congresso_luogo:Glasgow, Scotland, UK/congresso_data:June 6-9 2015/anno:2015/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: promoter analysis, KDM5C, NDDs, target genes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=cnr_________::721481d9440215fcd9e01418cf85bd9f
https://publications.cnr.it/doc/434922

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لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.