المؤلفون: Gambardella, Antonio, Liu, Yu‐Chi, Bennett, Mark F., Green, Timothy E., Damiano, John A., Fortunato, Francesco, Coleman, Matthew J., Cherfils, Jacqueline, Barnier, Jean‐Vianney, Gecz, Jozef, Bahlo, Melanie, Berkovic, Samuel F., Hildebrand, Michael S.

المساهمون: National Health and Medical Research Council

المصدر: Epilepsia Open ; ISSN 2470-9239 2470-9239

الاتاحة: https://doi.org/10.1002/epi4.13124
https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.13124

المؤلفون: Young, Emma, Harris, Rebekah, Lieffering, Nico, de Valles‐Ibáñez, Guillem, Nyaga, Denis, Bennett, Mark F., Hildebrand, Michael S., Scheffer, Ingrid E., Sadleir, Lynette G.

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

المصدر: Epilepsia ; volume 65, issue 8 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.18016
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.18016

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

الاتاحة: http://dx.doi.org/10.1002/epi4.12887
https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12887

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

الاتاحة: https://doi.org/10.1016/j.gimo.2023.100837
https://api.elsevier.com/content/article/PII:S2949774423008464?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423008464?httpAccept=text/plain

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

Relation: 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/10072/427505

الاتاحة: http://hdl.handle.net/10072/427505
https://doi.org/10.1093/brain/awad314

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

الاتاحة: http://dx.doi.org/10.1111/epi.17547
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17547
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/epi.17547

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

الاتاحة: http://dx.doi.org/10.1002/mds.29636

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

الاتاحة: https://doi.org/10.1038/s41380-022-01879-y
https://www.nature.com/articles/s41380-022-01879-y.pdf
https://www.nature.com/articles/s41380-022-01879-y

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

الاتاحة: http://dx.doi.org/10.1042/etls20230018
https://portlandpress.com/emergtoplifesci/article-pdf/7/3/349/952516/etls-2023-0018c.pdf

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 6, page 1018 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2023.05.005
https://api.elsevier.com/content/article/PII:S0002929723001623?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723001623?httpAccept=text/plain

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

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100810
https://api.elsevier.com/content/article/PII:S2949774423008191?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423008191?httpAccept=text/plain

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

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

الاتاحة: https://hdl.handle.net/2318/1889681
https://doi.org/10.1093/brain/awac082

المؤلفون: Fotis, Lampros, Shaikh, Nur, Baszis, Kevin, French, Anthony, Tarr, Phillip, Grevich, Sriharsha, Lee, Peggy, Ringold, Sarah, Leroux, Brian, Leahey, Hannah, Yuasa, Megan, Foster, Jessica, Sokolove, Jeremy, Lahey, Lauren, Robinson, William, Newsom, Joshua, Stevens, Anne, Karasawa, Rie, Tamaki, Mayumi, Tanaka, Megumi, Sato, Toshiko, Yudoh, Kazuo, Jarvis, James N, Moncrieffe, Halima, Bennett, Mark F, Tsoras, Monica, Luyrink, Lorie, Xu, Huan, Prahalad, Sampath, Morris, Paula, Dare, Jason, Nigrovic, Peter A, Rosenkranz, Margalit, Becker, Mara, O’Neil, Kathleen M, Griffin, Thomas, Lovell, Daniel J, Grom, Alexei A, Medvedovic, Mario, Thompson, Susan D, Zhu, Lisha, Jiang, Kaiyu, Wong, Laiping, Buck, Michael J, Chen, Yanmin, Brungs, Laura, Liu, Tao, Wang, Ting, Alsaeid, Khaled, Alfailakawi, Jasim, Alenezi, Hamid, Alsaeed, Hazim, Beukelman, Tim, Natter, Marc, Ilowite, Norm, Mieszkalski, Kelly, Burrell, Grendel, Best, Brian, Bristow, Helen, Carr, Shannon, Dennos, Anne, Kaufmann, Rachel, Kimura, Yukiko, Schanberg, Laura, Blier, Peter R, Boneparth, Alexis, Wenderfer, Scott E, Moorthy, L Nandini, Radhakrishna, Suhas M, Sagcal-Gironella, Anna Carmela P, von Scheven, Emily, Gedik, Kader Cetin, Siddique, Salma, Aguiar, Cassyanne L, Erkan, Doruk, Cohen, Ezra, Lee, Yvonne, Dossett, Michelle, Mehta, Darshan, Davis, Roger, Gilbert, Mileka, Goilav, Beatrice, Meidan, Esra, Hsu, Joyce, Chua, Anabelle, Ardoin, Stacy, Von Scheven, Emily, Ruth, Natasha M, Hui-Yuen, Joyce, Bermudez, Liza, Cook, Ashlea, Imundo, Lisa, Starr, Amy, Eichenfield, Andrew, Askanase, Anca

المصدر: Pediatric rheumatology online journal, vol 14 Suppl 1, iss S1

مصطلحات موضوعية: Arthritis & Rheumatology, Clinical Sciences, Paediatrics and Reproductive Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/83s8117x

المؤلفون: Grinton, Bronwyn E, Robertson, Erandee, Fearnley, Liam G, Scheffer, Ingrid E, Marson, Anthony G, O'Brien, Terence J, Pickrell, W Owen, Rees, Mark I, Sisodiya, Sanjay M, Balding, David J, Bennett, Mark F, Bahlo, Melanie, Berkovic, Samuel F, Oliver, Karen L

المصدر: American Journal of Human Genetics , 109 (11) pp. 2080-2087. (2022)

مصطلحات موضوعية: autosomal dominant, childhood-onset disease, epilepsy, founder event, genetics, haplotypes

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158802/1/Grinton%20et%20al%20SCN1B%20founder.pdf; https://discovery.ucl.ac.uk/id/eprint/10158802/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158802/1/Grinton%20et%20al%20SCN1B%20founder.pdf
https://discovery.ucl.ac.uk/id/eprint/10158802/

المؤلفون: Green, Timothy E., Schimmel, Mareike, Schubert, Susanna, Lemke, Johannes R., Bennett, Mark F., Hildebrand, Michael S., Berkovic, Samuel F.

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/93599
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-935992
https://doi.org/10.1038/s41431-021-01023-4
https://opus.bibliothek.uni-augsburg.de/opus4/files/93599/93599.pdf

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.

المساهمون: Department of Health | National Health and Medical Research Council, Department of Health, Australian Government

المصدر: Molecular Psychiatry ; ISSN 1359-4184 1476-5578

الاتاحة: http://dx.doi.org/10.1038/s41380-022-01764-8
https://www.nature.com/articles/s41380-022-01764-8.pdf
https://www.nature.com/articles/s41380-022-01764-8

المؤلفون: Dolzhenko, Egor, Weisburd, Ben, Ibañez, Kristina, Rajan-Babu, Indhu-Shree, Anyansi, Christine, Bennett, Mark F., Billingsley, Kimberley, Carroll, Ashley, Clamons, Samuel, Danzi, Matt C., Deshpande, Viraj, Ding, Jinhui, Fazal, Sarah, Halman, Andreas, Jadhav, Bharati, Qiu, Yunjiang, Richmond, Phillip A., Saunders, Christopher T., Scheffler, Konrad, van Vugt, Joke J. F. A., Zwamborn, Ramona R. A. J., Chong, Samuel S., Friedman, Jan M., Tucci, Arianna, Rehm, Heidi L., Eberle, Michael A.

المساهمون: None

المصدر: Genome Medicine ; volume 14, issue 1 ; ISSN 1756-994X

الاتاحة: http://dx.doi.org/10.1186/s13073-022-01085-z
https://link.springer.com/content/pdf/10.1186/s13073-022-01085-z.pdf
https://link.springer.com/article/10.1186/s13073-022-01085-z/fulltext.html

المؤلفون: Pilarczyk, Marcin, Fazel-Najafabadi, Mehdi, Kouril, Michal, Shamsaei, Behrouz, Vasiliauskas, Juozas, Niu, Wen, Mahi, Naim, Zhang, Lixia, Clark, Nicholas A., Ren, Yan, White, Shana, Karim, Rashid, Xu, Huan, Biesiada, Jacek, Bennett, Mark F., Davidson, Sarah E., Reichard, John F., Roberts, Kurt, Stathias, Vasileios, Koleti, Amar, Vidovic, Dusica, Clarke, Daniel J. B., Schürer, Stephan C., Ma’ayan, Avi, Meller, Jarek, Medvedovic, Mario

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-022-32205-3
https://www.nature.com/articles/s41467-022-32205-3.pdf
https://www.nature.com/articles/s41467-022-32205-3

المؤلفون: Bennett, Mark F., Hildebrand, Michael S., Kayumi, Sayaka, Corbett, Mark A., Gupta, Sachin, Ye, Zimeng, Krivanek, Michael, Burgess, Rosemary, Henry, Olivia J., Damiano, John A., Boys, Amber, Gécz, Jozef, Bahlo, Melanie, Scheffer, Ingrid E., Berkovic, Samuel F.

المصدر: Neurology Genetics ; volume 8, issue 1 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000652
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000652

المؤلفون: Lasky, Paul D., Bennett, Mark F., Melatos, Andrew

مصطلحات موضوعية: Astrophysics - High Energy Astrophysical Phenomena, Astrophysics - Cosmology and Nongalactic Astrophysics, General Relativity and Quantum Cosmology

URL الوصول: http://arxiv.org/abs/1302.6033