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1دورية أكاديمية
المؤلفون: Riley, Lisa G.Aff1, Aff2, IDs41431024016418_cor1, Sabui, SubrataAff3, Aff4, Said, Hamid M.Aff3, Aff4, Aff5, Niaz, Aram, Girisha, Katta M.Aff6, Aff7, Radhakrishnan, PeriyasamyAff7, Aff8, Nampoothiri, Sheela, Yesodharan, Dhanya, Kilo, Tatjana, Smith, JanineAff11, Aff12, Aff13, Wong, Rachel S. H., Menezes, Manoj P.Aff2, Aff14, Aff15, Gupta, SachinAff2, Aff14, Cooper, Sandra T.Aff2, Aff15, Aff16, Balasubramaniam, ShantiAff12, Aff13, Aff17
المصدر: European Journal of Human Genetics. 32(8):947-953
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2دورية أكاديمية
المؤلفون: Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela
المصدر: American Journal of Human Genetics. 110(8)
مصطلحات موضوعية: abnormal myelination, epilepsy, epileptic encephalopathy, hemolytic anemia, infantile spasms, ion channels, leak cation currents, osmotic stress, white matter abnormality, Humans, Brain Diseases, Ion Channels, Brain, Intellectual Disability, Phenotype
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4bb0k2qj
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3دورية أكاديمية
المؤلفون: Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., Engle, Elizabeth C.
المصدر: In Genetics in Medicine July 2024
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4دورية أكاديمية
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5دورية أكاديمية
المؤلفون: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo
المصدر: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
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6دورية أكاديمية
المؤلفون: Yan, Jingya, Kothur, Kavitha, Mohammad, Shekeeb, Chung, Jason, Patel, Shrujna, Jones, Hannah F., Keating, Brooke A., Han, Velda X., Webster, Richard, Ardern-Holmes, Simone, Antony, Jayne, Menezes, Manoj P., Tantsis, Esther, Gill, Deepak, Gupta, Sachin, Kandula, Tejaswi, Sampaio, Hugo, Farrar, Michelle A., Troedson, Christopher, Andrews, P Ian, Pillai, Sekhar C., Heng, Benjamin, Guillemin, Gilles J., Guller, Anna, Bandodkar, Sushil, Dale, Russell C.
المصدر: In eBioMedicine May 2023 91
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Wong, Wui-Kwan, Bryen, Samantha J, Bournazos, Adam, Yasa, Joe, Lemckert, Frances, Bommireddipall, Shobhana, Waddell, Leigh B, Menezes, Manoj P, Webster, Richard, Davis, Mark, Liang, Christina, Cooper, Sandra T, Jones, Kristi J
المصدر: In Neuromuscular Disorders September 2022 32(9):707-717
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10دورية أكاديمية
المؤلفون: Wojciechowski, Elizabeth A., Cheng, Tegan L., Hogan, Sean M., Mudge, Anita J., Balassone, Daniel, Menezes, Manoj P., Little, David G., Dwan, Leanne N., Burns, Joshua
المصدر: In Gait & Posture July 2022 96:73-80