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1Academic Journal
المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.
المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
وصف الملف: application/octet-stream
Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123
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2Academic Journal
المؤلفون: Ramirez-Martinez A., Zhang Y., van den Boogaard M. -J., McAnally J. R., Rodriguez-Caycedo C., Chai A. C., Chemello F., Massink M. P. G., Cuppen I., Elferink M. G., van Es R. J. J., Janssen N. G., Walraven-Van Oijen L. P. A. M., Liu N., Bassel-Duby R., van Jaarsveld R. H., Olson E. N.
المساهمون: Ramirez-Martinez A., Zhang Y., van den Boogaard M.-J., McAnally J.R., Rodriguez-Caycedo C., Chai A.C., Chemello F., Massink M.P.G., Cuppen I., Elferink M.G., van Es R.J.J., Janssen N.G., Walraven-Van Oijen L.P.A.M., Liu N., Bassel-Duby R., van Jaarsveld R.H., Olson E.N.
مصطلحات موضوعية: Monogenic disease, Muscle, Muscle Biology, Neuromuscular disease
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/35642635; info:eu-repo/semantics/altIdentifier/wos/WOS:000810524300004; volume:132; issue:11; firstpage:1; lastpage:11; numberofpages:11; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11585/956184; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131194308
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3Academic Journal
المؤلفون: Janssen, B. D. E., van den Boogaard, M. H., Lichtenbelt, K., Seaby, E. G., Stals, K., Ellard, S., Newbury-Ecob, R., Dixit, A., Roht, L., Pajusalu, S., Õunap, K., Firth, H. V., Buckley, M., Wilson, M., Roscioli, T., Tidwell, T., Mao, R., Ennis, S., Holwerda, S. J., van Gassen, K., van Jaarsveld, R. H.
مصطلحات موضوعية: Tfiid, human genetics, mendelian disorders, neurodevelopmental disorder
Relation: https://doi.org/10.1002/humu.24444; Hum Mutat. 2022 Jul 29. doi:10.1002/humu.24444.; https://rde.dspace-express.com/handle/11287/622579; Human mutation
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4Electronic Resource
المؤلفون: Pavinato, L, Delle Vedove, A, Carli, D, Ferrero, M, Carestiato, S, Howe, J, Agolini, E, Coviello, D, Van De Laar, I, Au, P, Di Gregorio, E, Fabbiani, A, Croci, S, Mencarelli, M, Bruno, L, Renieri, A, Veltra, D, Sofocleous, C, Faivre, L, Mazel, B, Safraou, H, DenommCrossed D signCopyright-Pichon, A, Van Slegtenhorst, M, Giesbertz, N, Van Jaarsveld, R, Childers, A, Rogers, R, Novelli, A, De Rubeis, S, Buxbaum, J, Scherer, S, Ferrero, G, Wirth, B, Brusco, A, Pavinato L., Delle Vedove A., Carli D., Ferrero M., Carestiato S., Howe J. L., Agolini E., Coviello D. A., Van De Laar I., Au P. Y. B., Di Gregorio E., Fabbiani A., Croci S., Mencarelli M. A., Bruno L. P., Renieri A., Veltra D., Sofocleous C., Faivre L., Mazel B., Safraou H., DenommCrossed D signCopyright-Pichon A. -S., Van Slegtenhorst M. A., Giesbertz N., Van Jaarsveld R. H., Childers A., Rogers R. C., Novelli A., De Rubeis S., Buxbaum J. D., Scherer S. W., Ferrero G. B., Wirth B., Brusco A.
مصطلحات الفهرس: ADHD, ASD, CAPRIN1, neurodevelopment, RNG105, info:eu-repo/semantics/article
URL:
https://hdl.handle.net/10281/502599
info:eu-repo/semantics/altIdentifier/pmid/35979925
info:eu-repo/semantics/altIdentifier/wos/WOS:000940602200015
volume:146
issue:2
firstpage:534
lastpage:548
numberofpages:15
journal:BRAIN -
5Academic Journal
المؤلفون: Pavinato L., Delle Vedove A., Carli D., Ferrero M., Carestiato S., Howe J. L., Agolini E., Coviello D. A., Van De Laar I., Au P. Y. B., Di Gregorio E., Fabbiani A., Croci S., Mencarelli M. A., Bruno L. P., Renieri A., Veltra D., Sofocleous C., Faivre L., Mazel B., Safraou H., DenommCrossed D signCopyright-Pichon A. -S., Van Slegtenhorst M. A., Giesbertz N., Van Jaarsveld R. H., Childers A., Rogers R. C., Novelli A., De Rubeis S., Buxbaum J. D., Scherer S. W., Ferrero G. B., Wirth B., Brusco A.
المساهمون: Pavinato, L, Delle Vedove, A, Carli, D, Ferrero, M, Carestiato, S, Howe, J, Agolini, E, Coviello, D, Van De Laar, I, Au, P, Di Gregorio, E, Fabbiani, A, Croci, S, Mencarelli, M, Bruno, L, Renieri, A, Veltra, D, Sofocleous, C, Faivre, L, Mazel, B, Safraou, H, DenommCrossed D signCopyright-Pichon, A, Van Slegtenhorst, M, Giesbertz, N, Van Jaarsveld, R, Childers, A, Rogers, R, Novelli, A, De Rubeis, S, Buxbaum, J, Scherer, S, Ferrero, G, Wirth, B, Brusco, A
مصطلحات موضوعية: ADHD, ASD, CAPRIN1, neurodevelopment, RNG105
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/35979925; info:eu-repo/semantics/altIdentifier/wos/WOS:000940602200015; volume:146; issue:2; firstpage:534; lastpage:548; numberofpages:15; journal:BRAIN; https://hdl.handle.net/10281/502599; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158143039
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6Academic Journal
المؤلفون: Hijazi, Hadia, Reis, Linda M, Pehlivan, Davut, Bernstein, Jonathan A, Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A, Gan-Or, Ziv, Rouleau, Guy A, Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R H, Lachmeijer, A M A, Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M, Marafi, Dana, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A, Hobson, Grace M, Hunter, Jill V, Carvalho, Claudia M B, Posey, Jennifer E, Semina, Elena V, Lupski, James R
المساهمون: Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica
مصطلحات موضوعية: Autistic Disorder/genetics, Female, Humans, Intellectual Disability/genetics, Male, Muscle Hypotonia/genetics, Phenotype, Syndrome, Transcription Factors/genetics, Journal Article, Research Support, Non-U.S. Gov't, N.I.H., Extramural
وصف الملف: application/pdf
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7Electronic Resource
المؤلفون: Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Hijazi, Hadia, Reis, Linda M, Pehlivan, Davut, Bernstein, Jonathan A, Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A, Gan-Or, Ziv, Rouleau, Guy A, Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R H, Lachmeijer, A M A, Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M, Marafi, Dana, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A, Hobson, Grace M, Hunter, Jill V, Carvalho, Claudia M B, Posey, Jennifer E, Semina, Elena V, Lupski, James R
URL:
https://doi.org/10.1016/j.ajhg.2022.10.007 http://hdl.handle.net/1874/453932 https://dspace.library.uu.nl/handle/1874/453932 http://www.scopus.com/inward/record.url?scp=85143379858&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
109
12
2270
2282 -
8Report
المؤلفون: Driehuis, E., Kolders, S., Spelier, S., Lohmussaar, K., Willems, S. M., Devriese, L. A., de Bree, R., de Ruiter, E. J., Korving, J., Begthel, H., Van Es, J. H., Geurts, V., He, G. W., van Jaarsveld, R. H., Oka, R., Muraro, M. J., Vivie, J., Zandvliet, Mmjm, Hendrickx, A. P. A., Iakobachvili, N., Sridevi, P., Kranenburg, O., van Boxtel, R., Kops, Gjpl, Tuveson, D. A., Peters, P. J., van Oudenaarden, A., Clevers, H.
مصطلحات موضوعية: cancer organoids, drugs and therapies, personalised therapy
Relation: Driehuis, E., Kolders, S., Spelier, S., Lohmussaar, K., Willems, S. M., Devriese, L. A., de Bree, R., de Ruiter, E. J., Korving, J., Begthel, H., Van Es, J. H., Geurts, V., He, G. W., van Jaarsveld, R. H., Oka, R., Muraro, M. J., Vivie, J., Zandvliet, Mmjm, Hendrickx, A. P. A., Iakobachvili, N., Sridevi, P., Kranenburg, O., van Boxtel, R., Kops, Gjpl, Tuveson, D. A., Peters, P. J., van Oudenaarden, A., Clevers, H. (May 2019) Oral mucosal organoids as a potential platform for personalized cancer therapy. Cancer Discov, 9 (7). pp. 852-871. ISSN 2159-8274
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