المؤلفون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, RG, Kutalik, Z, Martinet, D, Shen, YP, Valsesia, A, Beckmann, ND, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, BBA, Esko, T, Fernandez, BA, Fernandez-Aranda, F, Fernandez-Real, JM, Gratacos, M, Guilmatre, A, Hoyer, J, Jarvelin, MR, Kooy, RF, Kurg, A, Le Caignec, C, Mannik, K, Platt, OS, Sanlaville, D, Van Haelst, MM, Gomez, SV, Walha, F, Wu, BL, Yu, YG, Aboura, A, Addor, MC, Alembik, Y, Antonarakis, SE, Arveiler, B, Barth, M, Bednarek, N, Bena, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, HG, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, JM, Cuvellier, JC, David, A, de Freminville, B, Delobel, B, Delrue, MA, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, Moustafa, JSE, Elliott, P, Faas, BHW, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, HJ, Guichet, A, Guillin, O, Hartikainen, AL, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jimenez-Murcia, S, Helas, GJ, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstatter, A, Knoers, NVAM, Koolen, DA, Kroisel, PM, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, KD, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, MI, Meitinger, T, Mencarelli, MA, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, NC, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, GP, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, JS, Rieubland, C, Roberts, W, Roetzer, KM, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, DJ, Stefansson, H, Tengstrom, C, Thorsteinsdottir, U, Tinahones, FJ, Touraine, R, Vallee, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Volzke, H, Vulto-van Silfhout, AT, Waeber, G, Wallgren-Pettersson, C, Witwicki, RM, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, JF, Gustafsson, O, Metspalu, A, Scherer, SW, Stefansson, K, Blakemore, AIF, Beckmann, JS, Froguel, P

المصدر: Nature. 478(7367):97-U111

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123351294

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: Fusco C, Micale L, Egorov M, D'Addetta EV, Augello B, Fontana A, Polishchuk RS, Didelot G, Reymond A, Merla G., Calcagnì A, MONTI, MARIA, COZZOLINO, FLORA, PUCCI, PIETRO

المساهمون: Fusco, C, Micale, L, Egorov, M, Monti, Maria, D'Addetta, Ev, Augello, B, Cozzolino, Flora, Fontana, A, Polishchuk, R, Didelot, G, Reymond, A, Pucci, Pietro, Merla, G., Calcagnì, A

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000306354700049; volume:7; issue:7; firstpage:1; lastpage:13; numberofpages:13; journal:PLOS ONE; http://hdl.handle.net/11588/493140; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84863609087

الاتاحة: http://hdl.handle.net/11588/493140
https://doi.org/10.1371/journal.pone.0040440

المؤلفون: Gheldof, N., Witwicki, R.M., Migliavacca, E., Leleu, M., Didelot, G., Harewood, L., Rougemont, J., Reymond, A.

المصدر: PLoS One, vol. 8, no. 11, pp. e79973

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/24265791; info:eu-repo/semantics/altIdentifier/eissn/1932-6203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_71521CB25C1A1; https://serval.unil.ch/notice/serval:BIB_71521CB25C1A; https://serval.unil.ch/resource/serval:BIB_71521CB25C1A.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_71521CB25C1A
https://doi.org/10.1371/journal.pone.0079973
https://serval.unil.ch/resource/serval:BIB_71521CB25C1A.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_71521CB25C1A1

المؤلفون: Dheilly, E, Majocchi, S, Moine, V, Didelot, G, Broyer, L, Calloud, S, Malinge, P, Chatel, L, Ferlin, WG, Kosco-Vilbois, MH, Fischer, N, Masternak, K

المصدر: http://infoscience.epfl.ch/record/260238.

Relation: http://infoscience.epfl.ch/record/260238; isi:000428503500003; https://infoscience.epfl.ch/record/260238/files/2073-4468-7-1-3.pdf

الاتاحة: http://infoscience.epfl.ch/record/260238
https://doi.org/10.3390/antib7010003
https://infoscience.epfl.ch/record/260238/files/2073-4468-7-1-3.pdf

المؤلفون: Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P

المساهمون: Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, Rg, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, Nd, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, Bb, Esko, T, Fernandez, Ba, Fernández-Aranda, F, Fernández-Real, Jm, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, Mr, Kooy, Rf, Kurg, A, Le Caignec, C, Männik, K, Platt, O, Sanlaville, D, Van Haelst, Mm, Villatoro Gomez, S, Walha, F, Wu, Bl, Y, Yu, Aboura, A, Addor, Mc, Alembik, Y, Antonarakis, Se, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, Hg, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, Jm, Cuvellier, Jc, David, A, de Freminville, B, Delobel, B, Delrue, Ma, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J, Elliott, P, Faas, Bh, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, Hj, Guichet, A, Guillin, O, Hartikainen, Al, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, Gj

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000295575400042; journal:NATURE; https://hdl.handle.net/11588/916957; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80053920983

الاتاحة: https://hdl.handle.net/11588/916957

المؤلفون: Hor, H., Kutalik, Z., Dauvilliers, Y., Valsesia, A., Lammers, G.J., Donjacour, C.E., Iranzo, A., Santamaria, J., Peraita Adrados, R., Vicario, J.L., Overeem, S., Arnulf, I., Theodorou, I., Jennum, P., Knudsen, S., Bassetti, C., Mathis, J., Lecendreux, M., Mayer, G., Geisler, P., Beneto, A., Petit, B., Pfister, C., Burki, J.V., Didelot, G., Billiard, M., Ercilla, G., Verduijn, W., Claas, F.H., Vollenwider, P., Waeber, G., Waterworth, D.M., Mooser, V., Heinzer, R., Beckmann, J.S., Bergmann, S., Tafti, M.

المصدر: Nature Genetics, 42, 9, pp. 786-9

مصطلحات موضوعية: DCN 2: Functional Neurogenomics

Relation: http://hdl.handle.net/2066/88508; https://doi.org/10.1038/ng.647

الاتاحة: http://hdl.handle.net/2066/88508
https://doi.org/10.1038/ng.647

المؤلفون: Witwicki, R.M., Didelot, G., Howald, C., Harewood, L., Reymond, A.

المصدر: New Biotechnology ; volume 27, page S70 ; ISSN 1871-6784

الاتاحة: http://dx.doi.org/10.1016/j.nbt.2010.01.200
https://api.elsevier.com/content/article/PII:S1871678410002025?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1871678410002025?httpAccept=text/plain

المؤلفون: Milhiet, E., Comas, D., Richard, A., Didelot, G., Débarre, A., Preat, T., Tchenio, P.

المصدر: Journal of Luminescence ; volume 127, issue 1, page 276-279 ; ISSN 0022-2313

الاتاحة: http://dx.doi.org/10.1016/j.jlumin.2007.02.033
https://api.elsevier.com/content/article/PII:S0022231307000890?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022231307000890?httpAccept=text/plain

المؤلفون: Colleaux, Laurence, Didelot, G.

المساهمون: Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0036-8075.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: hal-02141791; https://hal.archives-ouvertes.fr/hal-02141791

الاتاحة: https://hal.archives-ouvertes.fr/hal-02141791
https://doi.org/10.1126/science.1127215

المؤلفون: Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N.D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., Leeuw, N. de, Vries, L.B.A. de, Esko, T., Fernandez, B.A., Fernandez-Aranda, F., Fernandez-Real, J.M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M.R., Kooy, R.F., Kurg, A., Caignec, C. Le, Mannik, K., Platt, O.S., Sanlaville, D., Haelst, M.M. van, Villatoro Gomez, S., Walha, F., Wu, B.L., Yu, Y., Aboura, A., Addor, M.C., Alembik, Y., Antonarakis, S.E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H.G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.M., Cuvellier, J.C., David, A., Freminville, B. de, Delobel, B., Delrue, M.A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J.S., Elliott, P., Faas, B.H.W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H.J., Guichet, A., Guillin, O., Hartikainen, A.L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G.J., et al.

المصدر: Nature; 97; 102; 0028-0836; 7367; 478; ~Nature~97~102~~~0028-0836~7367~478~~

URL: http://hdl.handle.net/2066/96105

المؤلفون: Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee

المساهمون: Simons VIP Consortium, 16p11.2 European Consortium, Addor, MC., Arveiler, B., Belfiore, M., Bena, F., Bernardini, L., Blanchet, P., Bonneau, D., Boute, O., Callier, P., Campion, D., Chiesa, J., Cordier, MP., Cuisset, JM., David, A., de Leeuw, N., de Vries, B., Didelot, G., Doco-Fenzy, M., Bedu, BD., Dubourg, C., Dupuis-Girod, S., Fagerberg, CR., Faivre, L., Fellmann, F., Fernandez, BA., 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, MP., 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, KM., Ruiter, M., Sanlaville, D., Selmoni, S., Shen, Y., Siffredi, V., Thonney, J., Vallée, L., van Binsbergen, E., Van der Aa, N., van Haelst MM., Vigneron, J., Vincent-Delorme, C., Vittoria, D., Vulto-van Silfhout AT., Witwicki, RM., Zwolinski, SA., Bowe, A., Beaudet, AL., Brewton, CM., Chu, Z., Dempsey, AG., Evans, YL., Garza, S., Kanne, SM., Laakman, AL., Lasala, MW., Llorens, AV., Marzano, G., Moss, TJ., Nowell, KP., Proud, MB., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K., Kessler, S., Khan, SY., Qasmieh, S., Bibb, AL., Paal, AM., Page, PZ., Smith-Packard, B., Buckner, R., Burko, J., Cavanagh, AL., Cerban, B., Snow, AV., Snyder, LG., Keehn, RM., Miller, DT., Miller, FK., Olson, JE., Triantafallou, C., Visyak, N., Atwell, C., Benedetti, M., Fischbach, GD., Greenup, M., Packer, A., Bukshpun, P., Cheong, M., Dale, C., Gobuty, SE., Hinkley, L., Jeremy, RJ., Lee, H., Luks, TL., Marco, EJ., Martin, AJ., McGovern, KE., Nagarajan, SS., Owen, J., Paul, BM., Pojman, NJ., 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., Other departments, Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), CHU Pontchaillou [Rennes], Department of Medical Genetics, Université de Lausanne (UNIL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Texas Children's Hospital [Houston, USA], Department of pediatrics, Primary palliative Care Research Group, Community Health Sciences, General Practice Section, University of Edinburgh, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Developmental Brain and Behaviour Unit, University of Southampton, Institute of Molecular and Cell Biology, University of Tartu, Department of Human Genetics, UCLA, University of California [Los Angeles] (UCLA), University of California-University of California-Semel Institute, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Lausanne = University of Lausanne (UNIL), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), University of California (UC)-University of California (UC)-Semel Institute, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Kooy, Frank

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Adolescent, [SDV]Life Sciences [q-bio], Developmental Disabilities, Biology, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Order, Genetics, medicine, Humans, Copy-number variation, Clinical genetics, Obesity, Young adult, Child, Genetics (clinical), 030304 developmental biology, Child Development Disorders, Pervasive/diagnosis, Child Development Disorders, Pervasive/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Intelligence Tests, Phenotype, Syndrome, 2. Zero hunger, Psychiatry, 0303 health sciences, Intelligence quotient, Neuropsychology, Complex traits, medicine.disease, Comorbidity, 3. Good health, Autism spectrum disorder, Child Development Disorders, Pervasive, Autism, Medical genetics, Human medicine, Copy-Number Variation, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea30c8d8ed101ea6de6cdb0eddb7b91
http://europepmc.org/articles/PMC3494011

المؤلفون: Maria Chiara Monti, Gérard Didelot, Carmela Fusco, Andrea Fontana, Roman S. Polishchuk, Alessia Calcagnì, Flora Cozzolino, Piero Pucci, Mikhail V. Egorov, Ester Valentina D’Addetta, Lucia Micale, Alexandre Reymond, Bartolomeo Augello, Giuseppe Merla

المساهمون: Fusco, C, Micale, L, Egorov, M, Monti, Maria, D'Addetta, Ev, Augello, B, Cozzolino, Flora, Calcagnì, A, Fontana, A, Polishchuk, R, Didelot, G, Reymond, A, Pucci, Pietro, Merla, G.

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 7, p e40440 (2012)
PLoS One, vol. 7, no. 7, pp. e40440

مصطلحات موضوعية: Male, Proteomics, lcsh:Medicine, Plasma protein binding, Histone Deacetylase 6, Biochemistry, Tripartite Motif Proteins, Mice, Protein Interaction Mapping, Sequestosome-1 Protein, Molecular Cell Biology, lcsh:Science, Cellular Stress Responses, Inclusion Bodies, Mice, Inbred C3H, Multidisciplinary, Signal transducing adaptor protein, Ubiquitinated Proteins, Cellular Structures, Cell biology, Transport protein, Ubiquitin ligase, Protein Transport, Aggresome, Female, Cellular Types, Protein Binding, Research Article, Ubiquitin-Protein Ligases, Biology, Histone Deacetylases, Autophagy, Genetics, Animals, Humans, Protein Interaction Domains and Motifs, Protein Interactions, Adaptor Proteins, Signal Transducing, lcsh:R, Proteins, HDAC6, Chaperone Proteins, Regulatory Proteins, Proteasome, Subcellular Organelles, Proteolysis, biology.protein, lcsh:Q, Gene Function, Lysosomes

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0e50805201477137263a9c6a4a7c71
https://pubmed.ncbi.nlm.nih.gov/22792322