المؤلفون: Vishnu, Venugopalan Y., Lemmers, Richard J. L. F., Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J., Kretkiewicz, Marcelina M., Macken, William L.^{Aff3, Aff4}, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M., Bhatia, Rohit, Wilson, Lindsay A., Houlden, Henry, Hanna, Michael G.^{Aff3, Aff4, IDs4143102401577z_cor15}, Bugiardini, Enrico, van der Maarel, Silvère M., Srivastava, M. V. Padma^{Aff1, IDs4143102401577z_cor18}

المصدر: European Journal of Human Genetics. 32(9):1053-1064

المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren, Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan, Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia, Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair, Pennavaria, Ajia, Krogstad, Liv, Bekkelund, Åse, Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten, Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra, Lochmuller, Hanns, Daas, Sahar, Fakhro, Khalid, Gómez-Pascual, Alicia, Botía, Juan, Wood, Nicholas, Horvath, Rita, Ernst, Andreas, Rothman, James, McEntagart, Meriel, Crow, Yanick, Alkuraya, Fowzan, Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Humans, Acetylation, Brain, Brain Diseases, Inheritance Patterns, Mutation, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type III

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hc1r6m8
https://escholarship.org/content/qt8hc1r6m8/qt8hc1r6m8.pdf

المؤلفون: Ellwanger, Kornelia^{Aff1, IDs41684024013952_cor1}, Brill, Julie A.^{Aff2, Aff3}, de Boer, Elke^{Aff4, Aff5}, Efthymiou, Stephanie, Elgersma, Ype, Icmat, Marynelle^{Aff2, Aff3}, Lecoquierre, François, Lobato, Amanda G.^{Aff9, Aff10, Aff25}, Morleo, Manuela^{Aff11, Aff12}, Ori, Michela, Schaffer, Ashleigh E., Vitobello, Antonio^{Aff15, Aff16}, Wells, Sara, Yalcin, Binnaz, Zhai, R. Grace^{Aff9, Aff25}, Sturm, Marc, Zurek, Birte, Graessner, Holm, Bermejo-Sánchez, Eva, Evangelista, Teresinha, Hoogerbrugge, Nicoline, Nigro, Vincenzo^{Aff11, Aff12}, Schüle, Rebecca, Verloes, Alain, Brunner, Han, Campeau, Philippe M., Lasko, Paul, Riess, Olaf^{Aff1, IDs41684024013952_cor28}

المصدر: Lab Animal. 53(7):161-165

المؤلفون: Harms, Frederike L., Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo^{Aff6, Aff7}, Sachdev, Rani^{Aff8, Aff9}, Stoeva, Radka, Myers, Kasiani^{Aff11, Aff12}, Pena, Loren D. M.^{Aff12, Aff13}, Kalfa, Theodosia A.^{Aff12, Aff14}, Chard, Marisa^{Aff15, Aff16}, Klassen, Megan, Pries, Megan, Kutsche, Kerstin^{Aff1, IDs41431024015635_cor17}

المصدر: European Journal of Human Genetics. 32(5):558-566

المؤلفون: Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza

مصطلحات موضوعية: Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/77b7h8nj

المؤلفون: Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren^{Aff10, Aff11}, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G.^{Aff17, Aff18, Aff19}, Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G.^{Aff26, Aff27}, Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan^{Aff29, Aff30}, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G.^{Aff34, Aff35}, Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R.^{Aff17, Aff18, Aff19, Aff39}, Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut^{Aff17, Aff18, Aff19}, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol^{Aff10, Aff16, Aff48}, Schoels, Ludger^{Aff29, Aff30}, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong^{Aff10, Aff11}, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv^{Aff1, Aff52}, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A.^{Aff1, Aff54, Aff55}, McPherson, Peter S.^{Aff1, IDs4146702451310z_cor85}

المصدر: Nature Communications. 15(1)

المؤلفون: Luo, Huihui, Gustavsson, Emil K.^{Aff2, Aff3}, Macpherson, Hannah^{Aff2, Aff4}, Dominik, Natalia, Zhelcheska, Kristina, Montgomery, Kylie^{Aff2, Aff3}, Anderson, Claire^{Aff2, Aff3}, Yau, Wai Yan, Efthymiou, Stephanie, Turner, Chris, DeTure, Michael, Dickson, Dennis W., Josephs, Keith A., Revesz, Tamas, Lashley, Tammaryn, Halliday, Glenda^{Aff10, Aff11, Aff12}, Rowe, Dominic B., McCann, Emily, Blair, Ian, Lees, Andrew J.^{Aff9, Aff14}, Tienari, Pentti J.^{Aff15, Aff16}, Suomalainen, Anu^{Aff17, Aff18, Aff19}, Molina-Porcel, Laura^{Aff20, Aff21}, Kovacs, Gabor G., Gelpi, Ellen, Hardy, John^{Aff4, Aff14, Aff24, Aff25, Aff26}, Haltia, Matti J., Tucci, Arianna, Jaunmuktane, Zane, Ryten, Mina^{Aff2, Aff3}, Houlden, Henry, Chen, Zhongbo^{Aff2, Aff3, Aff29, IDs40478023017067_cor32}

المصدر: Acta Neuropathologica Communications. 12(1)

المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia. 64(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0q22f2xm

المؤلفون: Zarouchlioti, Christina, Efthymiou, Stephanie, Facchini, Stefano, Dominik, Natalia, Bhattacharyya, Nihar, Liu, Siyin, Costa, Marcos Abreu, Szabo, Anita, Sadan, Amanda N., Jun, Albert S., Bugiardini, Enrico, Houlden, Henry, Cortese, Andrea, Skalicka, Pavlina, Dudakova, Lubica, Muthusamy, Kirithika, Cheetham, Michael E., Hardcastle, Alison J., Liskova, Petra, Tuft, Stephen J., Davidson, Alice E.

المصدر: In eBioMedicine October 2024 108

المؤلفون: Armirola-Ricaurte, Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor-Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayşe Ipek, Yiş, Uluç, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena

المصدر: In Genetics in Medicine June 2024 26(6)