المؤلفون: Koko M., Motelow J. E., Stanley K. E., Bobbili D. R., Dhindsa R. S., May P., Alldredge B. K., Allen A. S., Altmuller J., Amrom D., Andermann E., Auce P., Avbersek A., Baulac S., Bautista J. F., Becker F., Bellows S. T., Berghuis B., Berkovic S. F., Bluvstein J., Boro A., Bridgers J., Burgess R., Caglayan H., Cascino G. D., Cavalleri G. L., Chung S. -K., Cieuta-Walti C., Cloutier V., Consalvo D., Cossette P., Crumrine P., Delanty N., Depondt C., Desbiens R., Devinsky O., Dlugos D., Epstein M. P., Everett K., Fiol M., Fountain N. B., Francis B., French J., Freyer C., Friedman D., Gambardella A., Geller E. B., Girard S., Glauser T., Glynn S., Goldstein D. B., Gravel M., Haas K., Haut S. R., Heinzen E. L., Helbig I., Hildebrand M. S., Johnson M. R., Jorgensen A., Joshi S., Kanner A., Kirsch H. E., Klein K. M., Knowlton R. C., Koeleman B. P. C., Kossoff E. H., Krause R., Krenn M., Kunz W. S., Kuzniecky R., Langley S. R., LeGuern E., Lehesjoki A. -E., Lerche H., Leu C., Lortie A., Lowenstein D. H., Marson A. G., Mebane C., Mefford H. C., Meloche C., Moreau C., Motika P. V., Muhle H., Moller R. S., Nabbout R., Nguyen D. K., Nikanorova M., Novotny E. J., Nurnberg P., Ottman R., O'Brien T. J., Paolicchi J. M., Parent J. M., Park K., Peter S., Petrou S., Petrovski S., Pickrell W. O., Poduri A., Radtke R. A., Rees M. I., Regan B. M., Ren Z., Sadleir L. G., Sander J. W., Sander T., Scheffer I. E., Schubert J., Shellhaas R. A., Sherr E. H., Shih J. J., Shinnar S., Sills G. J., Singh R. K., Siren A., Sirven J., Sisodiya S. M., Smith M. C., Sonsma A. C. M., Striano P., Sullivan J., Thio L. L., Thomas R. H., Venkat A., Vining E. P. G., Von Allmen G. K., Wang Q., Weber Y. G., Weckhuysen S., Weisenberg J. L., Widdess-Walsh P., Winawer M. R., Wolking S., Zara F., Zimprich F.

المساهمون: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A.

مصطلحات موضوعية: GABRG2, GABAA receptor, GGE, familial epilepsy, sporadic epilepsy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35032048; info:eu-repo/semantics/altIdentifier/wos/WOS:000742638200001; volume:63; firstpage:723; lastpage:735; numberofpages:13; journal:EPILEPSIA; http://hdl.handle.net/11567/1080622Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122822705

الإتاحة: https://doi.org/10.1111/epi.17166Test
http://hdl.handle.net/11567/1080622Test

المؤلفون: Gozzelino L., Kochlamazashvili G., Baldassari S., Mackintosh A. I., Licchetta L., Iovino E., Liu Y. -C., Bennett C. A., Bennett M. F., Damiano J. A., Zsurka G., Marconi C., Giangregorio T., Magini P., Kuijpers M., Maritzen T., Norata G. D., Baulac S., Canafoglia L., Seri M., Tinuper P., Scheffer I. E., Bahlo M., Berkovic S. F., Hildebrand M. S., Kunz W. S., Giordano L., Bisulli F., Martini M., Haucke V., Hirsch E., Pippucci T.

المساهمون: Gozzelino L., Kochlamazashvili G., Baldassari S., Mackintosh A.I., Licchetta L., Iovino E., Liu Y.-C., Bennett C.A., Bennett M.F., Damiano J.A., Zsurka G., Marconi C., Giangregorio T., Magini P., Kuijpers M., Maritzen T., Norata G.D., Baulac S., Canafoglia L., Seri M., Tinuper P., Scheffer I.E., Bahlo M., Berkovic S.F., Hildebrand M.S., Kunz W.S., Giordano L., Bisulli F., Martini M., Haucke V., Hirsch E., Pippucci T.

مصطلحات موضوعية: class II PI3K, epilepsy, mTOR, PI3K-C2B, variant, Animal, Human, Lipid, Mechanistic Target of Rapamycin Complex 1, Mice, Mutation, Phosphatidylinositol 3-Kinase, Seizure, Class II Phosphatidylinositol 3-Kinase, Epilepsies, Partial

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35786744; info:eu-repo/semantics/altIdentifier/wos/WOS:000820595000001; volume:145; issue:7; firstpage:2313; lastpage:2331; numberofpages:19; journal:BRAIN; https://hdl.handle.net/11585/901431Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135419711; https://academic.oup.com/brain/article/145/7/2313/6628565?login=trueTest

الإتاحة: https://doi.org/10.1093/brain/awac082Test
https://hdl.handle.net/11585/901431Test
https://academic.oup.com/brain/article/145/7/2313/6628565?login=trueTest

المؤلفون: Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., Linhares, N., Burton, B. K., Paras, A., Ellard, S., Rankin, J., Shukla, A., Majethia, P., Olson, R. J., Muthusamy, K., Schimmenti, L. A., Starnes, K., Sedlackova, L., Sterbova, K., Vlckova, M., Lassuthova, P., Jahodova, A., Porter, B. E., Couque, N., Colin, E., Prouteau, C., Collet, C., Smol, T., Caumes, R., Vansenne, F., Bisulli, F., Licchetta, L., Person, R., Torti, E., McWalter, K., Webster, R., Gerard, E. E., Lesca, G., Szepetowski, P., Scheffer, I. E., Mefford, H. C., Carvill, G. L.

العلاقة: http://www.neurology.org/cgi/pmidlookup?view=long&pmid=36307226Test; Neurology. 2022 Oct 28:10.1212/WNL.0000000000201492. doi:10.1212/WNL.0000000000201492.; https://rde.dspace-express.com/handle/11287/622755Test; Neurology

الإتاحة: https://doi.org/10.1212/wnl.0000000000201492Test
https://doi.org/10.1212/WNL.0000000000201492Test
https://rde.dspace-express.com/handle/11287/622755Test

المؤلفون: Stephenson S. E. M., Costain G., Blok L. E. R., Silk M. A., Nguyen T. B., Dong X., Alhuzaimi D. E., Dowling J. J., Walker S., Amburgey K., Hayeems R. Z., Rodan L. H., Schwartz M. A., Picker J., Lynch S. A., Gupta A., Rasmussen K. J., Schimmenti L. A., Klee E. W., Niu Z., Agre K. E., Chilton I., Chung W. K., Revah-Politi A., Au P. Y. B., Griffith C., Racobaldo M., Raas-Rothschild A., Ben Zeev B., Barel O., Moutton S., Morice-Picard F., Carmignac V., Cornaton J., Marle N., Devinsky O., Stimach C., Wechsler S. B., Hainline B. E., Sapp K., Willems M., Bruel A. -L., Dias K. -R., Evans C. -A., Roscioli T., Sachdev R., Temple S. E. L., Zhu Y., Baker J. J., Scheffer I. E., Gardiner F. J., Schneider A. L., Muir A. M., Mefford H. C., Crunk A., Heise E. M., Millan F., Monaghan K. G., Person R., Rhodes L., Richards S., Wentzensen I. M., Cogne B., Isidor B., Nizon M., Vincent M., Besnard T., Piton A., Marcelis C., Kato K., Koyama N., Ogi T., Goh E. S. -Y., Richmond C., Amor D. J., Boyce J. O., Morgan A. T., Hildebrand M. S., Kaspi A., Bahlo M., Fridriksdottir R., Katrinardottir H., Sulem P., Stefansson K., Bjornsson H. T., Mandelstam S., Morleo M., Mariani M., Scala M., Accogli A., Torella A., Capra V., Wallis M., Jansen S., Weisfisz Q., de Haan H., Sadedin S., Lim S. C., White S. M., Ascher D. B., Schenck A., Lockhart P. J., Christodoulou J., Tan T. Y.

المساهمون: Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., Niu, Z., Agre, K. E., Chilton, I., Chung, W. K., Revah-Politi, A., Au, P. Y. B., Griffith, C., Racobaldo, M., Raas-Rothschild, A., Ben Zeev, B., Barel, O., Moutton, S., Morice-Picard, F., Carmignac, V., Cornaton, J., Marle, N., Devinsky, O., Stimach, C., Wechsler, S. B., Hainline, B. E., Sapp, K., Willems, M., Bruel, A. -L., Dias, K. -R., Evans, C. -A., Roscioli, T., Sachdev, R., Temple, S. E. L., Zhu, Y., Baker, J. J., Scheffer, I. E., Gardiner, F. J., Schneider, A. L., Muir, A. M., Mefford, H. C., Crunk, A., Heise, E. M., Millan, F., Monaghan, K. G., Person, R., Rhodes, L., Richards, S., Wentzensen, I. M., Cogne, B., Isidor, B., Nizon, M., Vincent, M., Besnard, T., Piton, A., Marcelis, C., Kato, K., Koyama, N., Ogi, T., Goh, E. S. -Y., Richmond, C., Amor, D. J., Boyce, J. O., Morgan, A. T., Hildebrand, M. S., Kaspi, A., Bahlo, M., Fridriksdottir, R., Katrinardottir, H., Sulem, P., Stefansson, K., Bjornsson, H. T., Mandelstam, S., Morleo, M., Mariani, M., Scala, M., Accogli, A., Torella, A., Capra, V., Wallis, M., Jansen, S., Weisfisz, Q., de Haan, H., Sadedin, S., Lim, S. C., White, S. M., Ascher, D. B.

مصطلحات موضوعية: brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issue, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000789105400006; volume:109; firstpage:601; lastpage:617; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11567/1119280Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470624

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.002Test
https://hdl.handle.net/11567/1119280Test

المؤلفون: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F.

المساهمون: Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Department of Medical and Clinical Genetics, Medicum, Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen

المصدر: Epilepsia
Epilepsia : the journal of the International League Against Epilepsy 63(3), 723-735 (2022). doi:10.1111/epi.17166
Epilepsia, vol 63, iss 3

مصطلحات موضوعية: GABA receptors, Neurology [D14] [Human health sciences], Clinical Sciences, GABA(A) receptors, GABRG2, familial epilepsy, Article, Clinical Research, Receptors, Exome Sequencing, Genetics, 2.1 Biological and endogenous factors, Humans, GGE, Genetic Predisposition to Disease, sporadic epilepsy, EpiPGX Consortium, Aetiology, gamma-Aminobutyric Acid, GABAA receptors, Epi4K Consortium, Epilepsy, Neurology & Neurosurgery, Neurologie [D14] [Sciences de la santé humaine], Generalized, GABA-A, Prevention, Human Genome, Neurosciences, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences, Receptors, GABA-A, EuroEPINOMICS-CoGIE Consortium, Neurology, Case-Control Studies, Epilepsy, Generalized, Canadian Epilepsy Network, Neurology (clinical), Genetics & genetic processes [F10] [Life sciences], 3111 Biomedicine, Human medicine, Génétique & processus génétiques [F10] [Sciences du vivant], Epilepsy Phenome/Genome Project

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7ae19c74c6656815103b75a8ec9b7fTest
http://hdl.handle.net/11567/1080622Test

المؤلفون: Gulcebi M. I., Bartolini E., Lee O., Lisgaras C. P., Onat F., Mifsud J., Striano P., Vezzani A., Hildebrand M. S., Jimenez-Jimenez D., Junck L., Lewis-Smith D., Scheffer I. E., Thijs R. D., Zuberi S. M., Blenkinsop S., Fowler H. J., Foley A., Sisodiya S. M., Balestrini S., Berkovic S., Cavalleri G., Correa D. J., Martins Custodio H., Galovic M., Guerrini R., Henshall D., Howard O., Hughes K., Katsarou A., Koeleman B. P. C., Krause R., Lowenstein D., Mandelenaki D., Marini C., O'Brien T. J., Pace A., De Palma L., Perucca P., Pitkanen A., Quinn F., Selmer K. K., Steward C. A., Swanborough N., Thijs R., Tittensor P., Trivisano M., Weckhuysen S., Zara F.

المساهمون: Gulcebi, M. I., Bartolini, E., Lee, O., Lisgaras, C. P., Onat, F., Mifsud, J., Striano, P., Vezzani, A., Hildebrand, M. S., Jimenez-Jimenez, D., Junck, L., Lewis-Smith, D., Scheffer, I. E., Thijs, R. D., Zuberi, S. M., Blenkinsop, S., Fowler, H. J., Foley, A., Sisodiya, S. M., Balestrini, S., Berkovic, S., Cavalleri, G., Correa, D. J., Martins Custodio, H., Galovic, M., Guerrini, R., Henshall, D., Howard, O., Hughes, K., Katsarou, A., Koeleman, B. P. C., Krause, R., Lowenstein, D., Mandelenaki, D., Marini, C., O'Brien, T. J., Pace, A., De Palma, L., Perucca, P., Pitkanen, A., Quinn, F., Selmer, K. K., Steward, C. A., Swanborough, N., Thijs, R., Tittensor, P., Trivisano, M., Weckhuysen, S., Zara, F.

مصطلحات موضوعية: Emergency, Extreme weather event, Global warming, Public health, Seizure, Temperature

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33578223; info:eu-repo/semantics/altIdentifier/wos/WOS:000617709000046; volume:116; firstpage:107791; lastpage:107798; numberofpages:8; journal:EPILEPSY & BEHAVIOR; http://hdl.handle.net/11567/1040368Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100820946

الإتاحة: https://doi.org/10.1016/j.yebeh.2021.107791Test
http://hdl.handle.net/11567/1040368Test

المؤلفون: Palencia-Campos A., Aoto P. C., Machal E. M. F., Rivera-Barahona A., Soto-Bielicka P., Bertinetti D., Baker B., Vu L., Piceci Sparascio F., Torrente I., Boudin E., Peeters S., Van Hul W., Huber C., Bonneau D., Hildebrand M. S., Coleman M., Bahlo M., Bennett M. F., Schneider A. L., Scheffer I. E., Kibaek M., Kristiansen B. S., Issa M. Y., Mehrez M. I., Ismail S., Tenorio J., Li G., Skalhegg B. S., Otaify G. A., Temtamy S., Aglan M., Jonch A. E., De Luca A., Mortier G., Cormier-Daire V., Ziegler A., Wallis M., Lapunzina P., Herberg F. W., Taylor S. S., Ruiz-Perez V. L.

المساهمون: Palencia-Campos, A., Aoto, P. C., Machal, E. M. F., Rivera-Barahona, A., Soto-Bielicka, P., Bertinetti, D., Baker, B., Vu, L., Piceci Sparascio, F., Torrente, I., Boudin, E., Peeters, S., Van Hul, W., Huber, C., Bonneau, D., Hildebrand, M. S., Coleman, M., Bahlo, M., Bennett, M. F., Schneider, A. L., Scheffer, I. E., Kibaek, M., Kristiansen, B. S., Issa, M. Y., Mehrez, M. I., Ismail, S., Tenorio, J., Li, G., Skalhegg, B. S., Otaify, G. A., Temtamy, S., Aglan, M., Jonch, A. E., De Luca, A., Mortier, G., Cormier-Daire, V., Ziegler, A., Wallis, M., Lapunzina, P., Herberg, F. W., Taylor, S. S., Ruiz-Perez, V. L.

مصطلحات موضوعية: cAMP signaling, congenital heart defect, Ellis-van Creveld syndrome, GLI transcritpion factor, hedgehog signaling, mosaicism, PKA, postaxial polydactyly, PRKACA, PRKACB

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33058759; info:eu-repo/semantics/altIdentifier/wos/WOS:000587855200015; volume:107; issue:5; firstpage:977; lastpage:988; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1555379Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85095455709

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.005Test
http://hdl.handle.net/11573/1555379Test

المؤلفون: Hildebrand M. S., Tankard R., Gazina E. V., Damiano J. A., Lawrence K. M., Dahl H. H. M., Regan B. M., Shearer A. E., Smith R. J. H., Marini C., Guerrini R., Labate A., Gambardella A., TINUPER, PAOLO, LICCHETTA, LAURA, Baldassari S., BISULLI, FRANCESCA, Pippucci T., Scheffer I. E., Reid C. A., Petrou S., Bahlo M., Berkovic S. F.

المساهمون: Hildebrand M.S., Tankard R., Gazina E.V., Damiano J.A., Lawrence K.M., Dahl H-H. M., Regan B.M., Shearer A.E., Smith R.J.H., Marini C., Guerrini R., Labate A., Gambardella A., Tinuper P., Licchetta L., Baldassari S., Bisulli F., Pippucci T., Scheffer I.E., Reid C.A., Petrou S., Bahlo M., Berkovic S.F.

مصطلحات موضوعية: Nocturnal frontal lobe epilepsy, NFLE, Autosomal Dominant

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26339676; info:eu-repo/semantics/altIdentifier/wos/WOS:000367237500004; volume:2; issue:8; firstpage:821; lastpage:830; numberofpages:10; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11585/511767Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84979657800

الإتاحة: https://doi.org/10.1002/acn3.224Test
http://hdl.handle.net/11585/511767Test

المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., TINUPER, PAOLO, LICCHETTA, LAURA, Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

المساهمون: Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E.

مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25401298; info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39; lastpage:46; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/201413 ,242167, 261433, 261123; http://hdl.handle.net/11585/515030Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144Test

الإتاحة: https://doi.org/10.1038/ng.3144Test
http://hdl.handle.net/11585/515030Test
https://www.nature.com/articles/ng.3144Test

المؤلفون: Le Duc, D., Giulivi, C., Hiatt, S. M., Napoli, E., Panoutsopoulos, A., De Crescenzo, A., Kotzaeridou, U., Syrbe, S., Anagnostou, E., Azage, M., Bend, R., Begtrup, A., Brown, N. J., Buettner, B., Cho, M. T., Cooper, G. M., Doering, J. H., Dubourg, C., Everman, D. B., Hildebrand, M. S., Santos, F. J. Reynoso, Kellam, B., Keller-Ramey, J., Lemke, J. R., Liu, S., Niyazov, D., Payne, K., Person, R., Quelin, C., Schnur, R. E., Smith, B. T.

الإتاحة: https://espace.library.uq.edu.au/view/UQ:281e38aTest