المؤلفون: Nyaga, Denis M., Hildebrand, Michael S., de Valles‐Ibáñez, Guillem, Keenan, Ngaire F., Ye, Zimeng, LaFlamme, Christy W., Mefford, Heather C., Bennett, Mark F., Bahlo, Melanie, Sadleir, Lynette G.

المساهمون: Health Research Council of New Zealand, National Health and Medical Research Council

المصدر: Epilepsia Open ; volume 9, issue 2, page 758-764 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12887Test

المؤلفون: Green, Timothy E., Garza, Denisse, Brown, Natasha J., de Silva, Michelle G., Bennett, Mark F., Tubb, Caitlin, Phillips, Roderic J., MacGregor, Duncan, Robertson, Susan J., Bekhor, Phillip, Simpson, Jodie, Penington, Anthony J., Hildebrand, Michael S.

المصدر: Genetics in Medicine Open ; volume 2, page 100837 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100837Test
https://api.elsevier.com/content/article/PII:S2949774423008464?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423008464?httpAccept=text/plainTest

المؤلفون: Morgan, Angela T, Scerri, Thomas S, Vogel, Adam P, Reid, Christopher A, Quach, Mara, Jackson, Victoria E, McKenzie, Chaseley, Burrows, Emma L, Bennett, Mark F, Turner, Samantha J, Reilly, Sheena, Horton, Sarah E, Block, Susan, Kefalianos, Elaina, Frigerio-Domingues, Carlos

مصطلحات موضوعية: Proteomics and metabolomics, Biomedical and clinical sciences, Health sciences, Psychology, PPID gene, brain MRI, chaperone, cyclophilin-40, stuttering

العلاقة: Brain; Morgan, AT; Scerri, TS; Vogel, AP; Reid, CA; Quach, M; Jackson, VE; McKenzie, C; Burrows, EL; Bennett, MF; Turner, SJ; Reilly, S; Horton, SE; Block, S; Kefalianos, E; Frigerio-Domingues, C; Sainz, E; Rigbye, KA; Featherby, TJ; Richards, KL; Kueh, A; Herold, MJ; Corbett, MA; Gecz, J; Helbig, I; Thompson-Lake, DGY; Liégeois, FJ; Morell, RJ; Hung, A; Drayna, D; Scheffer, IE; Wright, DK; Bahlo, M; Hildebrand, MS, Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40., Brain, 2023, 146 (12), pp. 5086-5097; http://hdl.handle.net/10072/427505Test

الإتاحة: https://doi.org/10.1093/brain/awad314Test
http://hdl.handle.net/10072/427505Test

المؤلفون: Oliver, Karen L., Scheffer, Ingrid E., Bennett, Mark F., Grinton, Bronwyn E., Bahlo, Melanie, Berkovic, Samuel F.

المساهمون: National Health and Medical Research Council

المصدر: Epilepsia ; volume 64, issue 5, page 1368-1375 ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17547Test

المؤلفون: Fearnley, Liam G., Rafehi, Haloom, Bennett, Mark F., Bahlo, Melanie

المساهمون: National Health and Medical Research Council, State Government of Victoria

المصدر: Movement Disorders ; volume 38, issue 12, page 2320-2322 ; ISSN 0885-3185 1531-8257

الإتاحة: https://doi.org/10.1002/mds.29636Test

المؤلفون: Kaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie, Morgan, Angela T.

المصدر: Molecular Psychiatry ; volume 28, issue 4, page 1664-1666 ; ISSN 1359-4184 1476-5578

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

الإتاحة: https://doi.org/10.1038/s41380-022-01879-yTest
https://www.nature.com/articles/s41380-022-01879-y.pdfTest
https://www.nature.com/articles/s41380-022-01879-yTest

المؤلفون: Rafehi, Haloom, Bennett, Mark F., Bahlo, Melanie

المساهمون: Yuen, Ryan

المصدر: Emerging Topics in Life Sciences ; volume 7, issue 3, page 349-359 ; ISSN 2397-8554 2397-8562

الإتاحة: https://doi.org/10.1042/etls20230018Test
https://portlandpress.com/emergtoplifesci/article-pdf/7/3/349/952516/etls-2023-0018c.pdfTest

المؤلفون: Rafehi, Haloom, Read, Justin, Szmulewicz, David J., Davies, Kayli C., Snell, Penny, Fearnley, Liam G., Scott, Liam, Thomsen, Mirja, Gillies, Greta, Pope, Kate, Bennett, Mark F., Munro, Jacob E., Ngo, Kathie J., Chen, Luke, Wallis, Mathew J., Butler, Ernest G., Kumar, Kishore R., Wu, Kathy HC., Tomlinson, Susan E., Tisch, Stephen, Malhotra, Abhishek, Lee-Archer, Matthew, Dolzhenko, Egor, Eberle, Michael A., Roberts, Leslie J., Fogel, Brent L., Brüggemann, Norbert, Lohmann, Katja, Delatycki, Martin B., Bahlo, Melanie, Lockhart, Paul J.

المصدر: The American Journal of Human Genetics ; volume 110, issue 1, page 105-119 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.11.015Test
https://api.elsevier.com/content/article/PII:S0002929722005067?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722005067?httpAccept=text/plainTest

المؤلفون: Green, Timothy E., Bennett, Mark F., Immisch, Ilka, Freeman, Jeremy L., Klein, Karl Martin, Kerrigan, John F., Vadlamudi, Lata, Heinzen, Erin L., Scheffer, Ingrid E., Harvey, A. Simon, Rosenow, Felix, Hildebrand, Michael S., Berkovic, Samuel F.

المساهمون: National Health and Medical Research Council

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100810 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100810Test
https://api.elsevier.com/content/article/PII:S2949774423008191?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423008191?httpAccept=text/plainTest

المؤلفون: Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso

المساهمون: Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso

مصطلحات موضوعية: PI3K-C2B, class II PI3K, epilepsy, mTOR, variants

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/2318/1889681Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135419711

الإتاحة: https://doi.org/10.1093/brain/awac082Test
https://hdl.handle.net/2318/1889681Test