المؤلفون: Alves, C.A.P.F., Sherbini, O., D’Arco, F., Steel, D., Kurian, M.A., Radio, F.C., Ferrero, G.B., Carli, D., Tartaglia, M., Balci, T.B., Powell-Hamilton, N.N., Schrier Vergano, S.A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E.R., Littlejohn, R.O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C.B., Mercimek-Andrews, S., Denecke, J., Lyons, M.J., Klopstock, T., Bhoj, E.J., Bryant, L., Vanderver, A.

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

Relation: https://mediatum.ub.tum.de/1748265; https://mediatum.ub.tum.de/doc/1748265/document.pdf

الاتاحة: https://mediatum.ub.tum.de/1748265
https://mediatum.ub.tum.de/doc/1748265/document.pdf
https://doi.org/10.3174/ajnr.a7555

المؤلفون: Royer-Bertrand, B., Jequier Gygax, M., Cisarova, K., Rosenfeld, J.A., Bassetti, J.A., Moldovan, O., O'Heir, E., Burrage, L.C., Allen, J., Emrick, L.T., Eastman, E., Kumps, C., Abbas, S., Van Winckel, G., Chabane, N., Zackai, E.H., Lebon, S., Keena, B., Bhoj, E.J., Umair, M., Li, D., Donald, K.A., Superti-Furga, A.

المساهمون: Undiagnosed Diseases Network

المصدر: Molecular autism, vol. 12, no. 1, pp. 69

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Calcium Channels, R-Type/genetics, Cation Transport Proteins/genetics, Child, Developmental Disabilities, Humans, Intellectual Disability/genetics, Phenotype, Seizures/genetics, Social Cognition, Autism spectrum disorder, CACNA1E, Developmental regression, Epilepsy, Exome sequencing, Global developmental delay, Intellectual disability, Neurodevelopmental disorders, Seizures, Topiramate

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34702355; info:eu-repo/semantics/altIdentifier/eissn/2040-2392; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_665170C145262; https://serval.unil.ch/notice/serval:BIB_665170C14526; https://serval.unil.ch/resource/serval:BIB_665170C14526.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_665170C14526
https://doi.org/10.1186/s13229-021-00473-3
https://serval.unil.ch/resource/serval:BIB_665170C14526.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_665170C145262

المؤلفون: Li, D., Wang, Q., Gong, N.N., Kurolap, A., Feldman, H.B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M.J., Wakeling, E., Hurst, J., March, M.E., Bhoj, E.J., Nowaczyk, M.J.M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., Bartholomew, D., Huang, Y., Lee, H., Martinez-Agosto, J.A., Schwaibold, E.M.C., Brunet, T., Choukair, D., Pais, L.S., White, S.M., Christodoulou, J., Brown, D., Lindstrom, K., Grebe, T., Tiosano, D., Kayser, M.S., Tan, T.Y., Deardorff, M.A., Song, Y., Hakonarson, H.

المساهمون: College of Medicine, University of Arizona

المصدر: Science Advances

Relation: Li, D., Wang, Q., Gong, N. N., Kurolap, A., Feldman, H. B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M. J., Wakeling, E., Hurst, J., March, M. E., Bhoj, E. J., Nowaczyk, M. J. M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., … Hakonarson, H. (2021). Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science Advances, 7(20).; http://hdl.handle.net/10150/660625; Science Advances

الاتاحة: http://hdl.handle.net/10150/660625
https://doi.org/10.1126/sciadv.abf2066

المؤلفون: Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

المصدر: Genetics in Medicine ; volume 23, issue 4, page 645-652 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-01040-6
http://www.nature.com/articles/s41436-020-01040-6.pdf
http://www.nature.com/articles/s41436-020-01040-6
https://api.elsevier.com/content/article/PII:S1098360021024540?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021024540?httpAccept=text/plain

المؤلفون: Bryant, L., Li, D., Cox, S.G., Marchione, D., Joiner, E.F., Wilson, K., Janssen, K., Lee, P., March, M.E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K.J., Wadley, A., Mancini, G.M.S., Powell-Hamilton, N., van de Kamp, J.M., Grebe, T., Dean, J., Ross, A., Crawford, H.P., Powis, Z., Cho, M.T., Willing, M.C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C.B., Retterer, K., Schuette, J.L., Innis, J.W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T.M., Monaghan, K.G., Yuan, Z.F., Dubbs, H., Bend, R., Lee, J.A., Lyons, M.J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K.L., Odent, S., Cogné, B., Mercier, S., Bézieau, S., Besnard, T., Küry, S., Redon, R., Reinson, K., Wojcik, M.H., Õunap, K., Ilves, P., Innes, A.M., Kernohan, K.D., Costain, G., Meyn, M.S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M.G., Martinez-Agosto, J.A., Nelson, S.F., Palmer, C.G.S., Papp, J.C., Parker, N.H., Sinsheimer, J.S., Vilain, E., Wan, J., Yoon, A.J., Zheng, A., Brimble, E., Ferrero, G.B., Radio, F.C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J.M., Umana, L., Weiss, M.M., Gotway, G., Stuurman, K.E., Thompson, M.L., McWalter, K., Stumpel, C.T.R.M., Stevens, S.J.C., Stegmann, A.P.A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L.W., Larsen, M.J., Byler, M., Lebel, R.R., Hurst, A.C., Schrier Vergano, S.A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M.I., Longo, N., Sellars, E., Louie, R.J., Cathey, S.S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J.G., Chung, W., Garcia, B., Hakonarson, H.H., Bhoj, E.J.

المصدر: Sci. Adv. 6:106267 (2020)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; info:eu-repo/semantics/altIdentifier/isbn/2375-2548; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60727; urn:isbn:2375-2548; urn:issn:2375-2548

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60727
https://doi.org/10.1126/sciadv.abc9207

المؤلفون: Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F.

المصدر: Science Advances; 2375-2548; 10; 9; eade1463; ~Science Advances~~~~~2375-2548~10~9~~eade1463

URL: https://repository.ubn.ru.nl/handle/2066/290785

المؤلفون: Küry, S. (Sébastien), Woerden, G.M. (Geeske) van, Besnard, T. (Thomas), Proietti-Onori, M. (Martina), Latypova, X. (Xénia), Towne, M.C. (Meghan C.), Cho, M.T. (Megan T.), Prescott, T. (Trine), Ploeg, M.A. (Melissa), Sanders, S. (Stephan), Stessman, H.A.F. (Holly A F), Pujol, A. (Aurora), Distel, B. (Ben), Robak, L.A. (Laurie A.), Bernstein, J.A. (Jonathan A.), Denommé-Pichon, A.-S. (Anne-Sophie), Lesca, G. (Gaëtan), Sellars, E.A. (Elizabeth A.), Berg, J. (Jonathan), Carré, W. (Wilfrid), Busk, ØL. (Øyvind Løvold), Bon, B. (Bregje) van, Waugh, J.L. (Jeff L.), Deardorff, M.A. (Matthew), Hoganson, G.E. (George E.), Bosanko, K.B. (Katherine B.), Johnson, D.S. (Diana S.), Dabir, T. (Tabib), Holla, ØL. (Øystein Lunde), Sarkar, A. (Ajoy), Tveten, K. (Kristian), de Bellescize, J. (Julitta), Braathen, G.J. (Geir J.), Terhal, P. (Paulien), Grange, D.K. (Dorothy K.), Haeringen, A. (Arie) van, Lam, C. (Christina), Mirzaa, G.M. (Ghayda), Burton, J. (Jennifer), Bhoj, E.J. (Elizabeth J.), Douglas, J. (Jessica), Santani, A.B. (Avni B.), Nesbitt, A.I. (Addie I.), Helbig, K.L. (Katherine L.), Andrews, M.V. (Marisa V.), Begtrup, A. (Amber), Tang, S. (Sha), van Gassen, K.L.I. (Koen L.I.), Juusola, J. (Jane), Foss, K. (Kimberly), Enns, G. (Gregory), Moog, U. (Ute), Hinderhofer, K. (Katrin), Paramasivam, N. (Nagarajan), Lincoln, S. (Sharyn), Kusako, B.H. (Brandon H.), Lindenbaum, P. (Pierre), Charpentier, E. (Eric), Nowak, C.B. (Catherine B.), Cherot, E. (Elouan), Simonet, T. (Thomas), Ruivenkamp, C.A. (Claudia), Hahn, S. (Sihoun), Brownstein, C.A. (Catherine A.), Xia, F. (Fan), Schmitt, S. (Sébastien), Deb, W. (Wallid), Bonneau, D. (Dominique), Nizon, M. (Mathilde), Quinquis, D. (Delphine), Chelly, J. (Jamel), Rudolf, G. (Gabrielle), Sanlaville, D. (Damien), Parent, P. (Philippe), Gilbert-Dussardier, B. (Brigitte), Toutain, A. (Annick), Sutton, V.R. (V. Reid), Thies, J. (Jenny), Peart-Vissers, L.E.L.M. (Lisenka E L M), Boisseau, P. (Pierre), Vincent, M. (Marie), Grabrucker, A.M. (Andreas M.), Dubourg, C. (Christèle), Tan, W.-H. (Wen-Hann), Verbeek, N.E. (Nienke), Granzow, M. (Martin), Santen, G.W.E. (Gijs), Shendure, J. (Jay), Isidor, B. (Bertrand), Pasquier, L. (Laurent), Redon, R. (Richard), Yang, Y. (Yaping), State, M.W. (Matthew), Kleefstra, T. (Tjitske), Cogné, B. (Benjamin), Petrovski, S. (Slavé), Retterer, K. (Kyle), Eichler, E.E. (Evan), Rosenfeld, J.A. (Jill), Agrawal, P.B. (Pankaj B.), Bézieau, S. (Stéphane), Odent, S. (Sylvie), Elgersma, Y. (Ype), Mercier, S. (Sandra)

المصدر: American Journal of Human Genetics vol. 101 no. 5, pp. 768-788

مصطلحات موضوعية: AMPAR, CAMK2, CAMK2A, CAMK2B, de novo mutations, intellectual disability, NMDAR, synaptic plasticity

Relation: http://repub.eur.nl/pub/102880; urn:hdl:1765/102880

الاتاحة: http://repub.eur.nl/pub/102880
https://doi.org/10.1016/j.ajhg.2017.10.003

المؤلفون: Sobering, A.K., Bryant, L.M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J.M., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L.K., Adler, E., Lyonnet, S., Pingault, V., Sandrine, M., Ziegler, A., Donald, T., Nelson, B., Holt, B., Petryna, O., Firth, H., McWalter, K., Zyskind, J., Telegrafi, A., Juusola, J., Person, R., Bamshad, M.J., Earl, D., Tsai, A.C.H., Yearwood, K.R., Marco, E., Nowak, C., Douglas, J., Hakonarson, H., Bhoj, E.J., Univ Washington Ctr Mendelian Geno

المصدر: Human Genetics and Genomics Advances, 3(3). ELSEVIER
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, Adler, É, Lyonnet, S, Pingault, V, Sandrine, M, Ziegler, A, Donald, T, Nelson, B, Holt, B, Petryna, O, Firth, H, McWalter, K, Zyskind, J, Telegrafi, A, Juusola, J, Person, R, Bamshad, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102

مصطلحات موضوعية: histone demethylation, PHF8, Molecular Medicine, orofacial clefting, Genetics (clinical), epigenetic gene regulation, X-linked intellectual disability

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0c2f4bddb24a1f74df42714cfbbe1
https://hdl.handle.net/1887/3561451

المؤلفون: Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C., Deciphering Dev Disorder Study

المصدر: Genetics in Medicine

مصطلحات موضوعية: autism, developmental delay, intellectual disability, epilepsy, missense variants

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub; lumc-id: 112023180; https://hdl.handle.net/1887/3184942

الاتاحة: https://hdl.handle.net/1887/3184942
https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub
https://doi.org/10.1038/s41436-019-0657-0

المؤلفون: Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), Bhoj, E.J. (Elizabeth J.)

مصطلحات الفهرس: info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/132337

المؤلفون: Kury, S., Woerden, G.M. van, Besnard, T., Onori, M.P., Latypova, X., Towne, M.C., Cho, M.T., Prescott, T.E., Ploeg, M.A., Sanders, S., Stessman, H.A.F., Pujol, A., Distel, ben, Robak, L.A., Bernstein, J.A., Denomme-Pichon, A.S., Lesca, G., Sellars, E.A., Berg, J., Carre, W., Busk, O.L., Bon, B.W.M. van, Waugh, J.L., Deardorff, M., Hoganson, G.E., Bosanko, K.B., Johnson, D.S., Dabir, T., Holla, O.L., Sarkar, A., Tveten, K., Bellescize, J. de, Braathen, G.J., Terhal, P.A., Grange, D.K., Haeringen, A. van, Lam, C., Mirzaa, G., Burton, J., Bhoj, E.J., Douglas, J., Santani, A.B., Nesbitt, A.I., Helbig, K.L., Andrews, M.V., Begtrup, A., Tang, S., Gassen, K.L.I. van, Juusola, J., Foss, K., Enns, G.M., Moog, U., Hinderhofer, K., Paramasivam, N., Lincoln, S., Kusako, B.H., Lindenbaum, P., Charpentier, E., Nowak, C.B., Cherot, E., Simonet, T., Ruivenkamp, C.A.L., Hahn, S., Brownstein, C.A., Xia, F., Schmitt, S., Deb, W., Bonneau, D., Nizon, M., Quinquis, D., Chelly, J., Rudolf, G., Sanlaville, D., Parent, P., Gilbert-Dussardier, B., Toutain, A., Sutton, V.R., Thies, J., Peart-Vissers, L.E.L.M., Boisseau, P., Vincent, M., Grabrucker, A.M., Dubourg, C., Tan, W.H., Verbeek, N.E., Granzow, M., Santen, G.W.E., Shendure, J., Isidor, B., Pasquier, L., Redon, R., Yang, Y.P., State, M.W., Kleefstra, T., Cogne, B., Petrovski, S., Retterer, K., Eichler, E.E., Rosenfeld, J.A., Agrawal, P.B., Bezieau, S., Odent, S., Elgersma, Y., Mercier, S., Undiagnosed Dis Network, GEM HUGO, Deciphering Dev Dis Study

المساهمون: Service de génétique médicale [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Neuroscience [Rotterdam, the Netherlands], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Expertise Center for Neurodevelopmental Disorders [Rotterdam, the Netherlands] (ENCORE), Genomics Program and Division of Genetics [Boston, USA], Harvard Medical School [Boston] (HMS)-Boston Children's Hospital-The Manton Center for Orphan Disease Research, Gene Discovery Core [Boston, MA, USA] ( The Manton Center for Orphan Disease Research), Harvard Medical School [Boston] (HMS)-Boston Children's Hospital, GeneDx [Gaithersburg, MD, USA], Department of Medical Genetics [Skien, Norway], Telemark Hospital Trust [Skien, Norway], Department of Psychiatry [San Francisco, CA, USA], University of California [San Francisco] (UCSF), University of California-University of California, Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Department of Pharmacology [Omaha, NE, USA], Creighton University Medical School [Omaha, NE, USA], Neurometabolic Diseases Laboratory [Barcelona, Spain], Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Centre for Biomedical Research on Rare Diseases [Barcelona, Spain] (CIBERER), Hospital Sant Joan de Déu [Barcelona], Institució Catalana de Recerca i Estudis Avançats (ICREA), Department of Medical Biochemistry [Amsterdam, the Netherlands] (Academic Medical Center), University of Amsterdam [Amsterdam] (UvA), Department of Molecular and Human Genetics [Houston, USA], Baylor College of Medecine, Department of Pediatrics [Stanford], Stanford Medicine, Stanford University-Stanford University, Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Service de Génétique [HCL, Lyon] (Centre de Référence des Anomalies du Développement), Hospices civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Section of Genetics and Metabolism [Little Rock, AR, USA], University of Arkansas for Medical Sciences (UAMS), Molecular and Clinical Medicine [Dundee, UK] (School of Medicine), University of Dundee [UK]-Ninewells Hospital & Medical School [Dundee, UK], Laboratoire de Génétique Moléculaire & Génomique [CHU Rennes], CHU Pontchaillou [Rennes], Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Department of Neurology [Boston], Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Department of Pediatrics [Philadelphia, PA, USA] (Division of Genetics), Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics [Chicago, IL, USA] (College of Medicine), University of Illinois [Chicago] (UIC), University of Illinois System-University of Illinois System, Sheffield Children's NHS Foundation Trust, Northern Ireland Regional Genetics Centre [Belfast, UK], Belfast City Hospital-Belfast Health and Social Care Trust, Nottingham Regional Genetics Service [Nottingham, UK], City Hospital Campus [Nottingham, UK]-Nottingham University Hospitals NHS Trust [UK], Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique [HCL, Lyon], Hospices Civils de Lyon (HCL), Department of Genetics [Utrecht, the Netherlands], University Medical Center [Utrecht], Department of Pediatrics [Saint Louis, MO, USA] (Division of Genetics and Genomic Medicine), Washington University in Saint Louis (WUSTL), Department of Clinical Genetics [Leiden, the Netherlands], Leiden University Medical Center (LUMC), Department of Pediatrics [Seattle, WA, USA] (Division of Genetic Medicine), University of Washington [Seattle]-Seattle Children’s Hospital, Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, The Center for Applied Genomics [Philadelphia, PA, USA], Division of Human Genetics [Philadelphia, PA, USA], Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA] (Perelman School of Medicine), Division of Clinical Genomics [Aliso Viejo, CA, USA], Ambry Genetics [Aliso Viejo, CA, USA], Division of Neurology [Philadelphia, PA, USA], Institute of Human Genetics [Heidelberg, Germany], Universität Heidelberg [Heidelberg], University of Heidelberg, Medical Faculty, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Service de Neurologie [CHU Strasbourg], Hôpital de Hautepierre [Strasbourg]-Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Département de génétique médicale en pédiatrie [CHRU Brest], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Génétique [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de Génétique [CHRU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Department of Biological Sciences [Limerick, Ireland], University of Limerick (UL), Bernal Institute [Limerick, Ireland], Howard Hughes Medical Institute [Seattle], Howard Hughes Medical Institute (HHMI), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de Génétique Clinique [CHU Rennes] (Réseau de Génétique et Génomique Médicale), Hôpitaux Universitaires du Grand Ouest, The Wellcome Trust Sanger Institute [Cambridge], Department of Medicine [Melbourne, Australia], University of Melbourne-Austin Health, Division of Newborn Medicine [Boston, MA, USA], Immunobiology of Human αβ and γδ T Cells and Immunotherapeutic Applications (CRCINA-ÉQUIPE 1), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Neurosciences, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Univ Angers, Okina, University of California [San Francisco] (UC San Francisco), University of California (UC)-University of California (UC), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus [Nottingham, UK], Universiteit Leiden-Universiteit Leiden, Department of Pediatrics [Seattle, WA, USA], University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Universität Heidelberg [Heidelberg] = Heidelberg University, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), 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 ), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Bernardo, Elizabeth

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.768-788. ⟨10.1016/j.ajhg.2017.10.003⟩
American Journal of Human Genetics, 101(5), 768-788. Cell Press
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101, pp.768-788
American Journal of Human Genetics, 101(5), 768. Cell Press
American Journal of Human Genetics, 101, 768-788
American Journal of Human Genetics, 2017, 101 (5), pp.768-788. ⟨10.1016/j.ajhg.2017.10.003⟩
American journal of human genetics, 101(5), 768-788. Cell Press
American Journal of Human Genetics, 101, 5, pp. 768-788
American Journal of Human Genetics, 101(5), 768-788

مصطلحات موضوعية: 0301 basic medicine, Male, de novo mutations, AMPAR, medicine.disease_cause, Inbred C57BL, Mice, 0302 clinical medicine, Intellectual disability, CAMK2A, Exome, Phosphorylation, Genetics (clinical), Genetics, Neurons, Mutation, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Brain, Phenotype, NMDAR, intellectual disability, Female, Signal transduction, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Signal Transduction, Glutamic Acid, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Article, Cell Line, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, medicine, Journal Article, Animals, Humans, Protein kinase A, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], synaptic plasticity, medicine.disease, Mice, Inbred C57BL, CAMK2, CAMK2B, 030104 developmental biology, HEK293 Cells, Synaptic plasticity, Calcium-Calmodulin-Dependent Protein Kinase Type 2, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af4aa9c3ab7955e841d490edad7f839
https://www.hal.inserm.fr/inserm-01813739

المؤلفون: Li, D., Chang, X., Connolly, J.J., Tian, L., Liu, Y., Bhoj, E.J., Robinson, N., Abrams, D.J., Li, Y.R., Bradfield, J.P., Kim, C.E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., Mentch, F.D., Thomas, K.A., Chiavacci, R.M., Cone, R.D., Li, B., Sleiman, P.A., Hakonarson, H., Perica, V.B., Franklin, C.S., Floyd, J.A.B., Thornton, L.M., Huckins, L.M., Southam, L., Rayner, N.W., Tachmazidou, I., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., Adan, R.A.H., Kas, M.J.H., Favaro, A., Santonastaso, P., Fernánde-Aranda, F., Gratacòs, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Keski-Rahkonen, A., Raevuori-Helkamaa, A., Furth, E.F.V., Slof-Opt Landt, M.C.T., Hudson, J.I., Reichborn-Kjennerud, T., Knudsen, G.P.S., Monteleone, P., Karwautz, A., Eating Disorders Working Group of the Psychiatric Genomics Consortium (Wichmann, H.-E.), Schork, N.J., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J.H., DeSocio, J.E., Hilliard, C.E., O'Toole, J.K., Pantel, J., Szatkiewicz, J.P., Zerwas, S., Davis, O.S.P., Helder, S., Bühren, K., Burghardt, R., de Zwaan, M.

المصدر: Sci. Rep. 7:3847 (2017)

Relation: info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/pissn/2045-2322; info:eu-repo/semantics/altIdentifier/eissn/2045-2322

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51461
https://doi.org/10.1038/s41598-017-01674-8

المؤلفون: Li, D. Chang, X. Connolly, J.J. Tian, L. Liu, Y. Bhoj, E.J. Robinson, N. Abrams, D. Li, Y.R. Bradfield, J.P. Kim, C.E. Li, J. Wang, F. Snyder, J. Lemma, M. Hou, C. Wei, Z. Guo, Y. Qiu, H. Mentch, F.D. Thomas, K.A. Chiavacci, R.M. Cone, R. Li, B. Sleiman, P.A. Hakonarson, H. Perica, V.B. Franklin, C.S. Floyd, J.A.B. Thornton, L.M. Huckins, L.M. Southam, L. Rayner, N.W. Tachmazidou, I. Schmidt, U. Tozzi, F. Kiezebrink, K. Hebebrand, J. Gorwood, P. Adan, R.A.H. Kas, M.J.H. Favaro, A. Santonastaso, P. Fernánde-Aranda, F. Gratacos, M. Rybakowski, F. Dmitrzak-Weglarz, M. Kaprio, J. Keski-Rahkonen, A. Raevuori-Helkamaa, A. Furth, E.F.V. Slof-Opt Landt, M.C.T. Hudson, J.I. Reichborn-Kjennerud, T. Knudsen, G.P.S. Monteleone, P. Karwautz, A. Berrettini, W.H. Schork, N.J. Ando, T. Inoko, H. Esko, T. Fischer, K. Männik, K. Metspalu, A. Baker, J.H. DeSocio, J.E. Hilliard, C.E. O'Toole, J.K. Pantel, J. Szatkiewicz, J.P. Zerwas, S. Davis, O.S.P. Helder, S. Bühren, K. Burghardt, R. De Zwaan, M. Egberts, K. Ehrlich, S. Herpertz-Dahlmann, B. Herzog, W. Imgart, H. Scherag, A. Zipfel, S. Boni, C. Ramoz, N. Versini, A. Danner, U.N. Hendriks, J. Koeleman, B.P.C. Ophoff, R.A. Strengman, E. Van Elburg, A.A. Bruson, A. Clementi, M. Degortes, D. Forzan, M. Tenconi, E. Docampo, E. Escaramís, G. Jiménez-Murcia, S. Lissowska, J. Rajewski, A. Szeszenia-Dabrowska, N. Slopien, A. Hauser, J. Karhunen, L. Meulenbelt, I. Slagboom, P.E. Tortorella, A. Maj, M. Dedoussis, G. DIkeos, D. Gonidakis, F. Tziouvas, K. Tsitsika, A. Papezova, H. Slachtova, L. Martaskova, D. Kennedy, J.L. Levitan, R.D. Yilmaz, Z. Huemer, J. Koubek, D. Merl, E. Wagner, G. Lichtenstein, P. Breen, G. Cohen-Woods, S. Farmer, A. McGuffin, P. Cichon, S. Giegling, I. Herms, S. Rujescu, D. Schreiber, S. Wichmann, H.-E. DIna, C. Sladek, R. Gambaro, G. Soranzo, N. Julia, A. Marsal, S. Rabionet, R. Gaborieau, V. DIck, D.M. Palotie, A. Ripatti, S. Widén, E. Andreassen, O.A. Espeseth, T. Lundervold, A. Reinvang, I. Steen, V.M. Le Hellard, S. Mattingsdal, M. Ntalla, I. Bencko, V. Foretova, L. Janout, V. Navratilova, M. Gallinger, S. Pinto, D. Scherer, S.W. Aschauer, H. Carlberg, L. Schosser, A. Alfredsson, L. DIng, B. Klareskog, L. Padyukov, L. Finan, C. Kalsi, G. Roberts, M. Barrett, J.C. Estivill, X. Hinney, A. Sullivan, P.F. Zeggini, E. Bulik, C.M. Brandt, H. Crawford, S. Crow, S. Fichter, M.M. Halmi, K.A. Johnson, C. Kaplan, A.S. La Via, M.C. Mitchell, J. Strober, M. Rotondo, A. Treasure, J. Woodside, D.B. Keel, P.K. Klump, K.L. Lilenfeld, L. Bergen, A.W. Kaye, W. Magistretti, P.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::78cf7689bc96ca8b59d856670883f180
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3056646

المؤلفون: Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

المصدر: Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p645-652, 8p