المؤلفون: Adang, Laura Ann, Groeschel, Samuel, Grzyb, Chloe, D'Aiello, Russell, Gavazzi, Francesco, Sherbini, Omar, Bronner, Nowa, Patel, Akshilkumar, Vincent, Ariel, Sevagamoorthy, Anjana, Mutua, Sylvia, Muirhead, Kayla, Schmidt, Johanna, Pizzino, Amy, Yu, Emily, Jin, Danielle, Eichler, Florian, Fraser, Jamie L., Emrick, Lisa, Van Haren, Keith, Boulanger, Jean-Martin, Ruzhnikov, Maura, Sylvain, Michel, Nguyen, Cam-Tu Émilie, Potic, Ana, Keller, Stephanie, Fatemi, Ali, Uebergang, Eloise, Poe, Michele, Yazdani, Pouneh Amir, Bernat, John, Lindstrom, Kristen, Bonkowsky, Joshua L., Bernard, Genevieve, Stutterd, Chloe A., Orchard, Paul, Gupta, Ashish O., Ljungberg, Merete, Groenborg, Sabine, Zambon, Alberto, Locatelli, Sara, Fumagalli, Francesca, Elguen, Saskia, Kehrer, Christiane, Krägeloh-Mann, Ingeborg, Shults, Justine, Vanderver, Adeline, Escolar, Maria L.

المصدر: In Molecular Genetics and Metabolism August 2024 142(4)

المؤلفون: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

المؤلفون: Francis, David I., Stark, Zornitza^{Aff1, Aff2}, Scheffer, Ingrid E.^{Aff2, Aff3, Aff4, Aff5}, Tan, Tiong Yang^{Aff1, Aff2}, Murali, Krithika, Gallacher, Lyndon, Amor, David J.^{Aff1, Aff2}, Goel, Himanshu^{Aff6, Aff7}, Downie, Lilian^{Aff1, Aff2}, Stutterd, Chloe A., Krzesinski, Emma I., Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L., Baxter, Anne^{Aff6, Aff7}, Hackett, Anna^{Aff6, Aff7}, Ayres, Samantha^{Aff1, Aff2}, Lunke, Sebastian^{Aff1, Aff2}, Kalitsis, Paul^{Aff1, IDs41431022012325_cor24}, Wall, Meaghan^{Aff1, IDs41431022012325_cor25}

المصدر: European Journal of Human Genetics. 31(5):521-525

المؤلفون: Wallis, Mathew^{Aff1, Aff9, Aff10}, Bodek, Simon D.^{Aff1, Aff16, IDs13023024032975_cor2}, Munro, Jacob^{Aff2, Aff3}, Rafehi, Haloom^{Aff2, Aff3}, Bennett, Mark F.^{Aff2, Aff3, Aff4}, Ye, Zimeng, Schneider, Amy, Gardiner, Fiona, Valente, Giulia, Murdoch, Emma, Uebergang, Eloise^{Aff1, Aff7}, Hunter, Jacquie, Stutterd, Chloe^{Aff1, Aff6, Aff7, Aff8}, Huq, Aamira^{Aff1, Aff18}, Salmon, Lucinda^{Aff1, Aff11}, Scheffer, Ingrid^{Aff1, Aff4, Aff5}, Eratne, Dhamidhu^{Aff1, Aff4, Aff12}, Meyn, Stephen, Fong, Chun Y., John, Tom^{Aff1, Aff16, Aff19}, Mullen, Saul^{Aff1, Aff4}, White, Susan M.^{Aff6, Aff7, Aff8}, Brown, Natasha J.^{Aff6, Aff7, Aff8}, McGillivray, George^{Aff6, Aff13}, Chen, Jesse, Richmond, Chris, Hughes, Andrew^{Aff1, Aff16}, Krzesinski, Emma, Fennell, Andrew^{Aff1, Aff17}, Chambers, Brian^{Aff1, Aff16}, Santoreneos, Renee^{Aff1, Aff6}, Le Fevre, Anna^{Aff1, Aff2, Aff6}, Hildebrand, Michael S., Bahlo, Melanie^{Aff2, Aff3}, Christodoulou, John^{Aff6, Aff7, Aff8}, Delatycki, Martin^{Aff1, Aff6, Aff7, Aff8}, Berkovic, Samuel F.^{Aff1, Aff4}

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G

المصدر: European Journal of Human Genetics. 29(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Neurosciences, Human Genome, Pediatric, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Codon, Nonsense, Exome, Exons, Female, Homozygote, Humans, Male, Microcephaly, Nerve Tissue Proteins, Neurodevelopmental Disorders, Pedigree, RNA Splice Sites, RNA Splicing, Syndrome, Vesicular Transport Proteins, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8rz7m8qm

المؤلفون: Luke, Joanne^{Aff1, IDs41467022327070_cor1}, Dalach, Philippa, Tuer, Lindsay^{Aff2, Aff3}, Savarirayan, Ravi, Ferdinand, Angeline, McGaughran, Julie^{Aff4, Aff5}, Kowal, Emma, Massey, Libby^{Aff3, Aff7}, Garvey, Gail, Dawkins, Hugh, Jenkins, Misty, Paradies, Yin, Pearson, Glenn, Stutterd, Chloe A.^{Aff2, Aff13}, Baynam, Gareth^{Aff12, Aff14, Aff15}, Kelaher, Margaret

المصدر: Nature Communications. 13(1)

المؤلفون: Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., Berkovic, Samuel F.

المصدر: In Journal of the Neurological Sciences 15 January 2021 420

المؤلفون: Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

المصدر: In Genetics in Medicine October 2020 22(10):1623-1632

المؤلفون: Yeung, Alison^{Aff1, Aff2, Aff3}, Tan, Natalie B., Tan, Tiong Y.^{Aff1, Aff2, Aff3}, Stark, Zornitza^{Aff1, Aff2, Aff3}, Brown, Natasha^{Aff1, Aff3}, Hunter, Matthew F.^{Aff4, Aff5}, Delatycki, Martin^{Aff1, Aff3}, Stutterd, Chloe^{Aff1, Aff3}, Savarirayan, Ravi^{Aff1, Aff3}, Mcgillivray, George, Stapleton, Rachel, Kumble, Smitha, Downie, Lilian^{Aff1, Aff3}, Regan, Matthew^{Aff4, Aff5}, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Brett, Gemma R.^{Aff1, Aff2, Aff3}, Jarmolowicz, Anna^{Aff1, Aff2}, Prawer, Yael^{Aff2, Aff4, Aff5}, Valente, Giulia^{Aff2, Aff6}, Smagarinsky, Yana^{Aff1, Aff2}, Martyn, Melissa^{Aff2, Aff3, Aff7}, McEwan, Callum, Goranitis, Ilias^{Aff7, Aff8, Aff9}, Gaff, Clara^{Aff2, Aff3, Aff7}, White, Susan M.^{Aff1, Aff2, Aff3}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(12):1986-1993

المؤلفون: Stutterd, Chloe A., Francis, David, McGillivray, George, Lockhart, Paul J., Leventer, Richard J.

المصدر: In European Journal of Medical Genetics April 2020 63(4)