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1دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, G., Wentzensen, Ingrid, M., Crunk, Amy, Nicholls, Robert, D., Herman, Kristin, C., Deignan, Joshua, L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, M., Martinez, Jose, E., Finnila, Candice, R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, G., Lindhout, Dick, Au, Margaret, Graham Jr., John, M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, L., Lessard, Julie, Ernst, Carl, Campeau, Philippe, M.
المساهمون: McGill University = Université McGill Montréal, Canada, Université de Montréal (UdeM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), GeneDx Gaithersburg, MD, USA, University of California Davis (UC Davis), University of California (UC), David Geffen School of Medicine Los Angeles, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), University of Calgary, UCL Queen Square Institute of Neurology, University College of London London (UCL), Yokohama City University (YCU), Asahikawa Medical College, Trondheim University, Haukeland University Hospital, University of Bergen (UiB), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), University of Groningen Groningen, University Medical Center Groningen Groningen (UMCG), Children's Hospital of Pittsburgh of UPMC Etats-Unis, Belfast City Hospital, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Child and Adolescent Psychiatry Department AP- HP Hôpital Robert Debré, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HudsonAlpha Institute for Biotechnology Huntsville, AL, Children’s Rehabilitation Service Mobile, AL (CRS), Children's Rehabilitation Service Montgomery, AL (CRS), University Medical Center Utrecht (UMCU), Cambridge University Hospitals - NHS (CUH), University of Cambridge UK (CAM), University Hospital Leipzig = Universitätsklinikum Leipzig, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Cedars-Sinai Medical Center, CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), We acknowledge funding by FRQS doctoral (S.B.), Indonesian Endowment Fund for Education PhD award (M.J.), CONACYT (Mexico) and MITACS (K.M.V.), Genome Canada and Génome Québec (J.L.M. and E.R.), Canada Research Chairs program (G.T. and C.E.), AMED, MEXT, JST, MHLW, and Takeda Science Foundation (N. Matsumoto), and CIHR grant (C.E. and P.M.C.).
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, MESH: Actins, MESH: Adult, MESH: Child, Preschool, MESH: Chromatin, MESH: Chromosomal Proteins, Non-Histone, MESH: DNA-Binding Proteins, MESH: Dendrites, MESH: Epilepsy, MESH: Female, MESH: Humans, MESH: Induced Pluripotent Stem Cells, MESH: Infant, MESH: Male, MESH: Mutation, MESH: Neurodevelopmental Disorders, MESH: Neurons, MESH: Young Adult, [SCCO.NEUR]Cognitive science/Neuroscience
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31031012; pasteur-03325419; https://pasteur.hal.science/pasteur-03325419Test; https://pasteur.hal.science/pasteur-03325419/documentTest; https://pasteur.hal.science/pasteur-03325419/file/1-s2.0-S0002929719301181-am.pdfTest; PUBMED: 31031012; PUBMEDCENTRAL: PMC6507050
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
https://pasteur.hal.science/pasteur-03325419Test
https://pasteur.hal.science/pasteur-03325419/documentTest
https://pasteur.hal.science/pasteur-03325419/file/1-s2.0-S0002929719301181-am.pdfTest -
2دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Ostern, Rune, Houge, Gunnar, Hafstrom, Maria, Fassi, Emily, Houlden, Henry, Wassink-Ruiter, Jolien S. Klein, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
المصدر: Bell , S , Rousseau , J , Peng , H , Aouabed , Z , Priam , P , Theroux , J-F , Jefri , M , Tanti , A , Wu , H , Kolobova , I , Silviera , H , Manzano-Vargas , K , Ehresmann , S , Hamdan , F F , Hettige , N , Zhang , X , Antonyan , L , Nassif , C , Ghaloul-Gonzalez , L , Sebastian , J , Vockley , J , Begtrup , A G , Wentzensen , I M , Crunk , A , ....
مصطلحات موضوعية: CHROMATIN REMODELING COMPLEX, COFFIN-SIRIS SYNDROME, SYNAPTIC PLASTICITY, PROTEIN EXPRESSION, SWI/SNF COMPLEX, MEMORY, GENE, OLIGODENDROCYTE, TRANSCRIPTION, DISORDERS
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
https://cris.maastrichtuniversity.nl/en/publications/b450dbfd-8169-49ba-bb1b-631d6999c29bTest -
3دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Ostern, Rune, Houge, Gunnar, Hafstrom, Maria, Fassi, Emily, Houlden, Henry, Wassink-Ruiter, Jolien S. Klein, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne
المصدر: Bell , S , Rousseau , J , Peng , H , Aouabed , Z , Priam , P , Theroux , J-F , Jefri , M , Tanti , A , Wu , H , Kolobova , I , Silviera , H , Manzano-Vargas , K , Ehresmann , S , Hamdan , F F , Hettige , N , Zhang , X , Antonyan , L , Nassif , C , Ghaloul-Gonzalez , L , Sebastian , J , Vockley , J , Begtrup , A G , Wentzensen , I M , Crunk , A , ....
مصطلحات موضوعية: CHROMATIN REMODELING COMPLEX, COFFIN-SIRIS SYNDROME, SYNAPTIC PLASTICITY, PROTEIN EXPRESSION, SWI/SNF COMPLEX, MEMORY, GENE, OLIGODENDROCYTE, TRANSCRIPTION, DISORDERS
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
https://hdl.handle.net/11370/fb6a9bbb-1052-4346-8cf3-23b5111f6525Test
https://research.rug.nl/en/publications/fb6a9bbb-1052-4346-8cf3-23b5111f6525Test
https://pure.rug.nl/ws/files/93426003/1_s2.0_S0002929719301181_main.pdfTest -
4دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, G., Wentzensen, Ingrid, M., Crunk, Amy, Nicholls, Robert, D., Herman, Kristin, C., Deignan, Joshua, L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, M., Martinez, Jose, E., Finnila, Candice, R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, G., Lindhout, Dick, Au, Margaret, Graham Jr., John, M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, L., Lessard, Julie, Ernst, Carl, Campeau, Philippe, M.
المساهمون: McGill University = Université McGill Montréal, Canada, Université de Montréal (UdeM), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), GeneDx Gaithersburg, MD, USA, University of California Davis (UC Davis), University of California (UC), David Geffen School of Medicine Los Angeles, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC), University of Calgary, UCL Queen Square Institute of Neurology, University College of London London (UCL), Yokohama City University (YCU), Asahikawa Medical College, Trondheim University, Haukeland University Hospital, University of Bergen (UiB), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), University of Groningen Groningen, University Medical Center Groningen Groningen (UMCG), Children's Hospital of Pittsburgh of UPMC Etats-Unis, Belfast City Hospital, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Child and Adolescent Psychiatry Department AP- HP Hôpital Robert Debré, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), HudsonAlpha Institute for Biotechnology Huntsville, AL, Children’s Rehabilitation Service Mobile, AL (CRS), Children's Rehabilitation Service Montgomery, AL (CRS), University Medical Center Utrecht, Cambridge University Hospitals - NHS (CUH), University of Cambridge UK (CAM), University Hospital Leipzig = Universitätsklinikum Leipzig, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Cedars-Sinai Medical Center, CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), We acknowledge funding by FRQS doctoral (S.B.), Indonesian Endowment Fund for Education PhD award (M.J.), CONACYT (Mexico) and MITACS (K.M.V.), Genome Canada and Génome Québec (J.L.M. and E.R.), Canada Research Chairs program (G.T. and C.E.), AMED, MEXT, JST, MHLW, and Takeda Science Foundation (N. Matsumoto), and CIHR grant (C.E. and P.M.C.).
المصدر: ISSN: 0002-9297.
مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, MESH: Actins, MESH: Adult, MESH: Child, Preschool, MESH: Chromatin, MESH: Chromosomal Proteins, Non-Histone, MESH: DNA-Binding Proteins, MESH: Dendrites, MESH: Epilepsy, MESH: Female, MESH: Humans, MESH: Induced Pluripotent Stem Cells, MESH: Infant, MESH: Male, MESH: Mutation, MESH: Neurodevelopmental Disorders, MESH: Neurons, MESH: Young Adult, [SCCO.NEUR]Cognitive science/Neuroscience
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31031012; pasteur-03325419; https://pasteur.hal.science/pasteur-03325419Test; https://pasteur.hal.science/pasteur-03325419/documentTest; https://pasteur.hal.science/pasteur-03325419/file/1-s2.0-S0002929719301181-am.pdfTest; PUBMED: 31031012; PUBMEDCENTRAL: PMC6507050
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
https://pasteur.hal.science/pasteur-03325419Test
https://pasteur.hal.science/pasteur-03325419/documentTest
https://pasteur.hal.science/pasteur-03325419/file/1-s2.0-S0002929719301181-am.pdfTest -
5دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne
المساهمون: Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labour and Welfare, Canada Research Chairs, Japan Agency for Medical Research and Development, Genome Canada, Consejo Nacional de Ciencia y Tecnología, Génome Québec, Japan Science and Technology Agency, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Mitacs, Takeda Science Foundation
المصدر: The American Journal of Human Genetics ; volume 104, issue 5, page 815-834 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.03.022Test
https://api.elsevier.com/content/article/PII:S0002929719301181?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719301181?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Bell S., Rousseau J., Peng H., Aouabed Z., Priam P., Theroux J. -F., Jefri M., Tanti A., Wu H., Kolobova I., Silviera H., Manzano-Vargas K., Ehresmann S., Hamdan F. F., Hettige N., Zhang X., Antonyan L., Nassif C., Ghaloul-Gonzalez L., Sebastian J., Vockley J., Begtrup A. G., Wentzensen I. M., Crunk A., Nicholls R. D., Herman K. C., Deignan J. L., Al-Hertani W., Efthymiou S., Salpietro V., Miyake N., Makita Y., Matsumoto N., Ostern R., Houge G., Hafstrom M., Fassi E., Houlden H., Klein Wassink-Ruiter J. S., Nelson D., Goldstein A., Dabir T., van Gils J., Bourgeron T., Delorme R., Cooper G. M., Martinez J. E., Finnila C. R., Carmant L., Lortie A., Oegema R., van Gassen K., Mehta S. G., Huhle D., Abou Jamra R., Martin S., Brunner H. G., Lindhout D., Au M., Graham J. M., Coubes C., Turecki G., Gravel S., Mechawar N., Rossignol E., Michaud J. L., Lessard J., Ernst C., Campeau P. M.
المساهمون: Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J. -F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Klein Wassink-Ruiter, J. S., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L., Lortie, A., Oegema, R., van Gassen, K., Mehta, S. G., Huhle, D., Abou Jamra, R., Martin, S., Brunner, H. G., Lindhout, D., Au, M., Graham, J. M., Coubes, C., Turecki, G., Gravel, S., Mechawar, N., Rossignol, E., Michaud, J. L., Lessard, J., Ernst, C., Campeau, P. M.
مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31031012; info:eu-repo/semantics/altIdentifier/wos/WOS:000466608700004; volume:104 (5); firstpage:815; lastpage:834; numberofpages:20; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/969530Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064931418
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7دورية أكاديمية
المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
المساهمون: Genetica, Genetica Klinische Genetica, Brain, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics
مصطلحات موضوعية: intellectual disability, seizure, ACTL6B, stem cells, genetic engineering, neurodevelopment, Genetics, Genetics(clinical), Journal Article
وصف الملف: application/pdf