المؤلفون: Gillentine, MA, Wang, TY, Hoekzema, K, Rosenfeld, J, Liu, PF, Guo, H, Kim, CN, De Vries, BBA, Vissers, LELM, Nordenskjold, M, Kvarnung, M, Lindstrand, A, Nordgren, A, Gecz, J, Iascone, M, Cereda, A, Scatigno, A, Maitz, S, Zanni, G, Bertini, E, Zweier, C, Schuhmann, S, Wiesener, A, Pepper, M, Panjwani, H, Torti, E, Abid, F, Anselm, I, Srivastava, S, Atwal, P, Bacino, CA, Bhat, G, Cobian, K, Bird, LM, Friedman, J, Wright, MS, Callewaert, B, Petit, F, Mathieu, S, Afenjar, A, Christensen, CK, White, KM, Elpeleg, O, Berger, I, Espineli, EJ, Fagerberg, C, Brasch-Andersen, C, Hansen, LK, Feyma, T, Hughes, S, Thiffault, I, Sullivan, B, Yan, S, Keller, K, Keren, B, Mignot, C, Kooy, F, Meuwissen, M, Basinger, A, Kukolich, M, Philips, M, Ortega, L, Drummond-Borg, M, Lauridsen, M, Sorensen, K, Lehman, A, Lopez-Rangel, E, Levy, P, Lessel, D, Lotze, T, Madan-Khetarpal, S, Sebastian, J, Vento, J, Vats, D, Benman, LM, Mckee, S, Mirzaa, GM, Muss, C, Pappas, J, Peeters, H, Romano, C, Elia, M, Galesi, O, Simon, MEH, van Gassen, KLI, Simpson, K, Stratton, R, Syed, S, Thevenon, J, Palafoll, IV, Vitobello, A, Bournez, M, Faivre, L, Xia, K, Earl, RK, Nowakowski, T, Bernier, RA, Eichler, EE

المصدر: Genome medicine. 13(1):63

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146541529

المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.

المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP

مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177

الاتاحة: https://hdl.handle.net/20.500.12210/84177

المؤلفون: Taljaard, L., Probst, A., Tornow, R., Keiser, J., Haynes, R. K., van der Kooy, F.

وصف الملف: application/pdf

Relation: https://edoc.unibas.ch/90844/1/20221201154130_6388bd1a4b1bf.pdf; Taljaard, L. and Probst, A. and Tornow, R. and Keiser, J. and Haynes, R. K. and van der Kooy, F. (2022) In vitro antischistosomal activity of Artemisia annua and Artemisia afra extracts. Phytomed Plus, 2 (3). p. 100279.; urn:ISSN:2667-0313

الاتاحة: https://edoc.unibas.ch/90844/
https://edoc.unibas.ch/90844/1/20221201154130_6388bd1a4b1bf.pdf
https://doi.org/10.1016/j.phyplu.2022.100279

المؤلفون: Olatunji, T.L., Siebert, F., Adetunji, A.E., Harvey, B.H., Gericke, J., Hamman, J.H., Van der Kooy, F.

المصدر: Journal of Ethnopharmacology ; volume 287, page 114711 ; ISSN 0378-8741

الاتاحة: https://doi.org/10.1016/j.jep.2021.114711
https://api.elsevier.com/content/article/PII:S0378874121009405?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378874121009405?httpAccept=text/plain

المؤلفون: Cavallo F., Troglio F., Faga G., Fancelli D., Shyti R., Trattaro S., Zanella M., D'Agostino G., Hughes J. M., Cera M. R., Pasi M., Gabriele M., Lazzarin M., Mihailovich M., Kooy F., Rosa A., Mercurio C., Varasi M., Testa G.

المساهمون: Cavallo, F., Troglio, F., Faga, G., Fancelli, D., Shyti, R., Trattaro, S., Zanella, M., D'Agostino, G., Hughes, J. M., Cera, M. R., Pasi, M., Gabriele, M., Lazzarin, M., Mihailovich, M., Kooy, F., Rosa, A., Mercurio, C., Varasi, M., Testa, G.

مصطلحات موضوعية: 7q11.23 duplication syndrome, Autism spectrum disorder, GTF2I, HDAC inhibitor, High-throughput screening, Induced pluripotent stem cell, Intellectual disability, Neurons

Relation: info:eu-repo/semantics/altIdentifier/pmid/33208191; info:eu-repo/semantics/altIdentifier/wos/WOS:000590512800001; volume:11; issue:1; numberofpages:18; journal:MOLECULAR AUTISM; http://hdl.handle.net/11573/1462047; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85096225474

الاتاحة: http://hdl.handle.net/11573/1462047
https://doi.org/10.1186/s13229-020-00387-6

المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.

المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array

Relation: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الاتاحة: http://hdl.handle.net/11568/996341
https://doi.org/10.1111/epi.14683
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.14683

المؤلفون: Coppola, A, Cellini, E, Stamberger, H, Saarentaus, E, Cetica, V, Lal, D, Djémié, T, Bartnik-Glaska, M, Ceulemans, B, Helen Cross, J, Deconinck, T, Masi, SD, Dorn, T, Guerrini, R, Hoffman-Zacharska, D, Kooy, F, Lagae, L, Lench, N, Lemke, JR, Lucenteforte, E, Madia, F, Mefford, HC, Morrogh, D, Nuernberg, P, Palotie, A, Schoonjans, A-S, Striano, P, Szczepanik, E, Tostevin, A, Vermeesch, JR, Esch, HV, Paesschen, WV, Waters, JJ, Weckhuysen, S, Zara, F, Jonghe, PD, Sisodiya, SM, Marini, C, EuroEPINOMICS-RES Consortium, ., EpiCNV Consortium, .

المصدر: Epilepsia (2019) (In press).

مصطلحات موضوعية: SNP array, array CGH, copy number variants, epilepsy genes

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdf; https://discovery.ucl.ac.uk/id/eprint/10071080/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10071080/1/Coppola_et_al-2019-Epilepsia.pdf
https://discovery.ucl.ac.uk/id/eprint/10071080/

المؤلفون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik K, van der Werf I, Giannuzzi G, Zazhytska M, Gheldof N, Migliavacca E, Alfaiz AA, Roberts Caldeira I, Hippolyte L, Maillard AM, Ferrarini A, Butschi FN, Conrad B, Addor MC, Belfiore M, Roetzer K, Dijck AV, Blaumeiser B, Kooy F, Roelens F, Dheedene A, Chiaie BD, Menten B, Oostra A, Caberg JH, Carter M, Kellam B, Stavropoulos DJ, Marshall C, Scherer SW, Weksberg R, Cytrynbaum C, Bassett A, Lowther C, Gillis J, MacKay S, Bache I, Ousager LB, Smerdel MP, Graakjaer J, Kjaergaard S, Metspalu A, Mathieu M, Bonneau D, Guichet A, Parent P, Férec C, Gerard M, Plessis G, Lespinasse J, Masurel A, Marle N, Faivre L, Callier P, Layet V, Meur NL, Le Goff C, Duban Bedu B, Sukno S, Boute O, Andrieux J, Blanchet P, Geneviève D, Puechberty J, Schneider A, Leheup B, Jonveaux P, Mercier S, David A, Le Caignec C, de Pontual L, Pipiras E, Jacquette A, Keren B, Gilbert Dussardier B, Bilan F, Goldenberg A, Chambon P, Toutain A, Till M, Sanlaville D, Leube B, Royer Pokora B, Grabe HJ, Schmidt CO, Schurmann C, Homuth G, Thorleifsson G, Thorsteinsdottir U, Bernardini L, Novelli A, Micale L, Merla G, Zollino M, MARI, FRANCESCA, Rizzo CL, RENIERI, ALESSANDRA, Silengo M, Vulto van Silfhout AT, Schouten M, Pfundt R, de Leeuw N, Vansenne F, Maas SM, Barge Schaapveld DQ, Knegt AC, Stadheim B, Rodningen O, Houge G, Price S, Hawkes L, Campbell C, Kini U, Vogt J, Walters R, Blakemore A, Gusella JF, Shen Y, Scott D, Bacino CA, Tsuchiya K, Ladda R, Sell S, Asamoah A, Hamati AI, Rosenfeld JA, Shaffer LG, Mitchell E, Hodge JC, Beckmann JS, Jacquemont S, Reymond A, Ewans LJ, Mowat D, Walker J, Amor DJ, Esch HV, Leroy P, Bamforth JS, Babu D, Isidor B, DiDonato N, Hackmann K, Passeggeri M, Haeringen AV, Smith R, Ellingwood S, Farber DM, Puri V, Zadeh N, Weaver DD, Miller M, Wilks T, Jorgez CJ, Lafayette D, Jacquemont S.

المساهمون: Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio, Mn, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P

مصطلحات موضوعية: Molecular Biology, Cellular and Molecular Neuroscience, Psychiatry and Mental Health

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11365/1010224; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; https://www.nature.com/articles/mp201684

الاتاحة: http://hdl.handle.net/11365/1010224
https://doi.org/10.1038/mp.2016.84
https://www.nature.com/articles/mp201684

المؤلفون: Jensen, L., Garrett, L., Holter, S., Rathkolb, B., Racz, I., Adler, T., Prehn, C., Hans, W., Rozman, J., Becker, L., Aguilar-Pimentel, J., Puk, O., Moreth, K., Dopatka, M., Walther, D., von Bohlen Und Halbach, V., Rath, M., Delatycki, M., Bert, B., Fink, H., Blumlein, K., Ralser, M., Van Dijck, A., Kooy, F., Stark, Z., Muller, S., Scherthan, H., Gecz, J., Wurst, W., Wolf, E., Zimmer, A., Klingenspor, M., Graw, J., Klopstock, T., Busch, D., Adamski, J., Fuchs, H., Gailus-Durner, V., de Angelis, M., von Bohlen Und Halbach, O., Ropers, H., Kuss, A.

المصدر: Biochim Biophys Acta Mol Basis Dis

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1879-260X (Electronic)0925-4439 (Print); http://hdl.handle.net/21.11116/0000-0003-587A-2; http://hdl.handle.net/21.11116/0000-0003-587C-0

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-587A-2
http://hdl.handle.net/21.11116/0000-0003-587C-0

المؤلفون: Olatunji, T.L., Siebert, F., Adetunji, A.E., Harvey, B.H., Gericke, J., Hamman, J.H., Van der Kooy, F.

المصدر: Journal of Ethnopharmacology ; volume 287, page 114712 ; ISSN 0378-8741

الاتاحة: http://dx.doi.org/10.1016/j.jep.2021.114712
https://api.elsevier.com/content/article/PII:S0378874121009417?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378874121009417?httpAccept=text/plain

المؤلفون: Grozeva D, Carss K, Spasic Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S, Italian X. linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Hurles M, Raymond F.L. Strangoni G, D' Avanzo G, Carnevale F, RESTA, Nicoletta, Scarano G, Mazzanti L, Borgatti R, Parini B, Marchina E, Strisciuglio P, Cavalli P, Bigoni S, Zammarchi E, Faravelli F, Di Rocco M, Lerone M, Gaslini G, D'Alessandro E, Selicorni A, Pantaleoni C, Bedeschi F, Rinaldi MM, Tenconi R, Verri A, Battaglia A, Guerrini R, Priolo M, Garavelli L, Neri G, Pergola M, Galasso C, Zelante L, Ferrero G, Memo L, Turolla L, Hladnik U, Romano C, Durbin R, Barrett J, Barroso I, Davey Smith G, Farooqi IS, O' Rahilly S, Palotie A, Soranzo N, Spector T, Zeggini E, Beales P, Blackwood D, Bolton P, Breen G, Chatterjee K, Collier D, Fitzpatrick D, Gallagher L, Geschwind D, Gurling H, Humphries S, McGuffin P, Monaco A, Muntoni F, Owen M, Raymond L, Savage D, Scambler P, Semple R, Skuse D, St Clair D, Timpson N, Van der Aa N, Ahmed A, Ajith VK, Archer H, Armstrong R, Balasubramanian M, Baralle D, Barnicoat A, Bennett C, Bernhard B, Bianciardi L, Bitner Glindzicz M, Blair E, van Bokhoven H, van Bon B, Bradley L, Brady A, Brewer C, Brunner H, Burke M, Caliebe A, Canham N, Castle B, Chandler K, Clarke A, Clayton Smith J, Clowes V, Cole T, Collins A, Cook J, Coughlin C, Cowe A, Cox H, Crow Y, Dabir T, Davies S, Deshpande D, Diderich KE, Dolling C, Donnai D, Donnelly D, Dooijes D, Dupont J, Ellis I, Van Esch H, De Filippis R, Firth H, Fisher R, Foulds N, Franco B, Fry A, Fryer A, Fuchs G, Garcia S, Gardiner C, Gibbons R, Goodship J, Green A, Greenhalgh L, Guanti G, Guilbert P, Halest MV, Haroon M, Harvey J, Henderson A, Hennekam R, Holden S, Holder S, Homfray T, Hurst J, Ionnides A, Jarvis J, Johnson DS, Jones E, Jones L, Jongmans M, Josifova D, Joss S, Kenny J, Kerr B, Kingston H, Kini U, Kivuva E, Kooy F, Kraus A, Kurian M, Lachlan K, Lam W, Lees M, Lindsay S, Longman C, Lynch S, Magee A, Van Maldergem L, Male A, Mari F, McConnell V, McGeb A, McKee S, McKeown C, McWilliam C, Medeira A, Mehta S, Metcalfe K, Mohammed S, Morton J, Murday V, Newbury Ecob R, Nik Zainal' S, Norman A, Park SM, Parker MJ, Prescott K, Price S, Procter A, Quarrell O, Rankin J, Rea G, Reardon W, Robert L, Rosser E, Sandford R, Scott R, Scurr I, Senger G, Sharif S, Shaw A, Shaw C, Shears D, Smithson S, Splitt M, Stewart A, Stewart F, Stewart H, Suri M, Sweeney E, Taffinder S, Tanteles G, Temple K, Thompson J, Tocher J, Tomkins S, Turner C, Turnpenny P, Vanderstein A, Vasudevan P, Villard L, Visser L, Wakeling E, Weber A, Williams D, Wilson L, Woods G, Wright M, Writzl K, Yates L.

المساهمون: Grozeva, D, Carss, K, Spasic Boskovic, O, Tejada, Mi, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, Ja, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Italian X., linked Mental Retardation Project, Uk10k, Consortium, Gold, Consortium, Hurles, M, Strangoni G, Raymond F. L., D' Avanzo, G, Carnevale, F, Resta, Nicoletta, Scarano, G, Mazzanti, L, Borgatti, R, Parini, B, Marchina, E, Strisciuglio, P, Cavalli, P, Bigoni, S, Zammarchi, E, Faravelli, F, Di Rocco, M, Lerone, M, Gaslini, G, D'Alessandro, E, Selicorni, A, Pantaleoni, C, Bedeschi, F, Rinaldi, Mm, Tenconi, R, Verri, A, Battaglia, A, Guerrini, R, Priolo, M, Garavelli, L, Neri, G, Pergola, M, Galasso, C, Zelante, L, Ferrero, G, Memo, L, Turolla, L, Hladnik, U, Romano, C, Durbin, R, Barrett, J, Barroso, I, Davey Smith, G, Farooqi, I, O' Rahilly, S, Palotie, A, Soranzo, N, Spector, T, Zeggini, E, Beales, P, Blackwood, D, Bolton, P, Breen, G, Chatterjee, K, Collier, D, Fitzpatrick, D, Gallagher, L, Geschwind, D, Gurling, H, Humphries, S, Mcguffin, P, Monaco, A, Muntoni, F, Owen, M, Raymond, L, Savage, D, Scambler, P, Semple, R, Skuse, D, St Clair, D, Timpson, N, Van der Aa, N, Ahmed, A

مصطلحات موضوعية: SETD5, ATRX, CUL4B, MECP2

Relation: info:eu-repo/semantics/altIdentifier/pmid/26350204; info:eu-repo/semantics/altIdentifier/wos/WOS:000364788500012; volume:36; issue:12; firstpage:1197; lastpage:1204; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11586/178176; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947019265

الاتاحة: http://hdl.handle.net/11586/178176
https://doi.org/10.1002/humu.22901

المؤلفون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y, Siffredi, V, Thonney, J, Vallée, L, Van Binsbergen, E, Van der Aa, N, Van Haelst, M. M, Vigneron, J, Vincent-Delorme, C, Vittoria, D, Vulto-Van Silfhout, A. T, Witwicki, R. M, Zwolinski, S. A, Bowe, A, Beaudet, A. L, Brewton, C. M, Chu, Z, Dempsey, A. G, Evans, Y. L, Garza, S, Kanne, S. M, Laakman, A. L, Lasala, M. W, Llorens, A. V, Marzano, G, Moss, T. J, Nowell, K. P, Proud, M. B, Chen, Q, Vaughan, R, Berman, J, Blaskey, L, Hines, K, Kessler, S, Khan, S. Y, Qasmieh, S, Bibb, A. L, Paal, A. M, Page, P. Z, Smith-Packard, B, Buckner, R, Burko, J, Cavanagh, A. L, Cerban, B, Snow, A. V, Snyder, L. G, Keehn, R. M, Miller, D. T, Miller, F. K, Olson, J. E, Triantafallou, C, Visyak, N, Atwell, C, Benedetti, M, Fischbach, G. D, Greenup, M, Packer, A, Bukshpun, P, Cheong, M, Dale, C, Gobuty, S. E, Hinkley, L, Jeremy, R. J, Lee, H, Luks, T. L, Marco, E. J, Martin, A. J, McGovern, K. E, Nagarajan, S. S, Owen, J, Paul, B. M, Pojman, N. J, Sinha, T, Swarnakar, V, Wakahiro, M, Alupay, H, Aaronson, B, Ackerman, S, Ankenman, K, Elgin, J, Gerdts, J, Johnson, K, Reilly, B, Shaw, D, Stevens, A, Ward, T, Wenegrat, J, Roberts, T. P. L.

المساهمون: Zufferey, F, Sherr, E. H, Beckmann, N. D, Hanson, E, Maillard, A. M, Hippolyte, L, Macé, A, Ferrari, C, Kutalik, Z, Andrieux, J, Aylward, E, Barker, M, Bernier, R, Bouquillon, S, Conus, P, Delobel, B, Faucett, W. A, Goin-Kochel, R. P, Grant, E, Harewood, L, Hunter, J. V, Lebon, S, Ledbetter, D. H, Martin, C. L, Männik, K, Martinet, D, Mukherjee, P, Ramocki, M. B, Spence, S. J, Steinman, K. J, Tjernage, J, Spiro, J. E, Reymond, A, Beckmann, J. S, Chung, W. K, Jacquemont, S, Addor, M. C, Arveiler, B, Belfiore, M, Bena, F, Bernardini, L, Blanchet, P, Bonneau, D, Boute, O, Callier, P, Campion, D, Chiesa, J, Cordier, M. P, Cuisset, J. M, David, A, De Leeuw, N, De Vries, B, Didelot, G, Doco-Fenzy, M, Bedu, B. D, Dubourg, C, Dupuis-Girod, S, Fagerberg, C. R, Faivre, L, Fellmann, F, Fernandez, B. A, Fisher, R, Flori, E, Goldenberg, A, Heron, D, Holder, M, Hoyer, J, Isidor, B, Jaillard, S, Jonveaux, P, Joriot, S, Journel, H, Kooy, F, le Caignec, C, Leheup, B, Lemaitre, M. -P, Lewis, S, Malan, V, Mathieu-Dramard, M, Metspalu, A, Morice-Picard, F, Mucciolo, M, Oiglane-Shlik, E, Ounap, K, Pasquier, L, Petit, F, Philippe, A, Plessis, G, Prieur, F, Puechberty, J, Rajcan-Separovic, E, Rauch, A, Renieri, A, Rieubland, C, Rooryck, C, Rötzer, K. M, Ruiter, M, Sanlaville, D, Selmoni, S, Shen, Y

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23054248; info:eu-repo/semantics/altIdentifier/wos/WOS:000309961000009; ispartofbook:Journal of Medical Genetics; volume:49; issue:10; firstpage:660; lastpage:668; numberofpages:9; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11365/960292; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870280744

الاتاحة: http://hdl.handle.net/11365/960292
https://doi.org/10.1136/jmedgenet-2012-101203

المؤلفون: Berg, C. C., Kooy, F.

المصدر: Brittonia, 1982 Jan 01. 34(1), 36-41.

URL الوصول: https://www.jstor.org/stable/2806398

المؤلفون: Ciolfi, A., Aref-Eshghi, E., Pizzi, S., Pedace, L., Miele, E., Kerkhof, J., Flex, E., Martinelli, S., Radio, F.C., Ruivenkamp, C.A.L, Santen, G.W.E., Bijlsma, E.K., Barge-Schaapveld, D.Q.C.M., Ounap, K., Mok Siu, V., Kooy, F. F., Dallapiccola, B., Sadikovic, B., Tartaglia, M.

المصدر: Paediatrics Publications

مصطلحات موضوعية: Pediatrics

وصف الملف: application/pdf

Relation: https://ir.lib.uwo.ca/paedpub/552; https://ir.lib.uwo.ca/context/paedpub/article/1559/viewcontent/s41431_020_00739_z.pdf

الاتاحة: https://ir.lib.uwo.ca/paedpub/552
https://doi.org/10.1038/s41431-020-00739-z
https://ir.lib.uwo.ca/context/paedpub/article/1559/viewcontent/s41431_020_00739_z.pdf

المؤلفون: Olatunji, T.L., Siebert, F., Adetunji, A.E., Harvey, B.H., Gericke, J., Hamman, J.H., Van der Kooy, F.

المصدر: Journal of Ethnopharmacology ; volume 280, page 114476 ; ISSN 0378-8741

الاتاحة: http://dx.doi.org/10.1016/j.jep.2021.114476
https://api.elsevier.com/content/article/PII:S0378874121007054?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378874121007054?httpAccept=text/plain

المؤلفون: Berman, RF, Buijsen, Ronald, Usdin, K, Pintado, E, Kooy, F, Pretto, D, Pessah, IN, Nelson, DL, Zalewski, Z, Charlet-Bergeurand, N, Willemsen, Rob, Hukema, Renate

المصدر: Berman , RF , Buijsen , R , Usdin , K , Pintado , E , Kooy , F , Pretto , D , Pessah , IN , Nelson , DL , Zalewski , Z , Charlet-Bergeurand , N , Willemsen , R & Hukema , R 2014 , ' Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome ' , Journal of Neurodevelopmental Disorders , vol. 6 . https://doi.org/10.1186/1866-1955-6-25

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a8a96c66-e2d4-4b09-afa9-19fa5b730514
https://doi.org/10.1186/1866-1955-6-25
https://pure.eur.nl/ws/files/47558987/Repub_89634_O-A.pdf

المؤلفون: Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., Eichler, E.E.

المصدر: Genome Medicine; 1756-994X; 1; vol. 13; 63; ~Genome Medicine~~~~~1756-994X~1~13~~63

المؤلفون: van Bon, BWM, Mefford, HC, Menten, Björn, Koolen, DA, Sharp, AJ, Nillesen, WM, Innis, JW, de Ravel, TJL, Mercer, CL, Fichera, M, Stewart, H, Connell, LE, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, MA, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, EM, Baker, C, Finnemore, P, Huang, S, Maloney, VK, Crolla, JA, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, JP, Janssens, Sandra, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, Bart, Woods, CG, Oostra, Ann, Speleman, Franki, Pereira, AC, Kurg, A, Willatt, L, Knight, SJL, Vermeesch, JR, Romano, C, Barber, JC, Mortier, Geert, Perez-Jurado, LA, Kooy, F, Brunner, HG, Eichler, EE, Kleefstra, T, de Vries, BBA

المصدر: JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593

مصطلحات موضوعية: LINKAGE DISEQUILIBRIUM, CHROMOSOME 22Q11, PRADER-WILLI, MENTAL-RETARDATION, SEGMENTAL DUPLICATIONS, MOLECULAR CHARACTERIZATION, ARRAY-CGH, ABSENT-RADIUS SYNDROME, HUMAN GENOME, COPY-NUMBER VARIATION

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/839113; http://hdl.handle.net/1854/LU-839113; http://dx.doi.org/10.1136/jmg.2008.063412; https://biblio.ugent.be/publication/839113/file/6825128

الاتاحة: https://biblio.ugent.be/publication/839113
http://hdl.handle.net/1854/LU-839113
https://doi.org/10.1136/jmg.2008.063412
https://biblio.ugent.be/publication/839113/file/6825128

المؤلفون: Meyer, M., Hussein, A., Muranaka, T., Seki, H., vd Kooy, F., Verpoorte, R.

المصدر: African Journal of Traditional, Complementary and Alternative Medicines; ABSTRACTS OF THE WORLD CONGRESS ON MEDICINAL AND AROMATIC PLANTS, CAPE TOWN NOVEMBER 2008; 319-320 ; 2505-0044 ; 0189-6016

Relation: https://journals.athmsi.org/index.php/ajtcam/article/view/641

الاتاحة: https://journals.athmsi.org/index.php/ajtcam/article/view/641

المؤلفون: Pomahacova, B., Van der Kooy, F., Verpoorte, R.

المصدر: Inhalation Toxicology ; volume 21, issue 13, page 1108-1112 ; ISSN 0895-8378 1091-7691

الاتاحة: http://dx.doi.org/10.3109/08958370902748559
http://www.tandfonline.com/doi/pdf/10.3109/08958370902748559