检索结果 - Sherbini, Omar

3358 Developmental Outcomes of Aicardi Goutieres Syndrome 由 Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline

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Aicardi Goutières Syndrome is associated with Pulmonary Hypertension 由 Adang, Laura A., Frank, David B., Gilani, Ahmed, Takanohashi, Asako, Ulrick, Nicole, Collins, Abigail, Cross, Zachary, Galambos, Csaba, Helman, Guy, Kanaan, Usama, Keller, Stephanie, Simon, Dawn, Sherbini, Omar, Hanna, Brian D., Vanderver, Adeline L.

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The AAA + ATPase Thorase is neuroprotective against ischemic injury 由 Zhang, Jianmin, Yang, Jia, Wang, Huaishan, Sherbini, Omar, Keuss, Matthew J, Umanah, George KE, Pai, Emily Ling-Lin, Chi, Zhikai, Paldanius, Kaisa MA, He, Wei, Wang, Hong, Andrabi, Shaida A, Dawson, Ted M, Dawson, Valina L

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Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. 由 Helman, Guy, Takanohashi, Asako, Hagemann, Tracy L., Perng, Ming D., Walkiewicz, Marzena, Woidill, Sarah, Sase, Sunetra, Cross, Zachary, Du, Yangzhu, Zhao, Ling, Waldman, Amy, Haake, Bret C., Fatemi, Ali, Brenner, Michael, Sherbini, Omar, Messing, Albee, Vanderver, Adeline, Simons, Cas

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High-Content Genome-Wide RNAi Screen Reveals CCR3 as a Key Mediator of Neuronal Cell Death 由 Zhang, Jianmin, Wang, Huaishan, Sherbini, Omar, Ling-lin Pai, Emily, Kang, Sung-Ung, Kwon, Ji-Sun, Yang, Jia, He, Wei, Wang, Hong, Eacker, Stephen M., Chi, Zhikai, Mao, Xiaobo, Xu, Jinchong, Jiang, Haisong, Andrabi, Shaida A., Dawson, Ted M., Dawson, Valina L.

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Phenotypic and imaging spectrum associated with WDR45 由 Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline

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Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry 由 Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Bona, Maria Della, la Marca, Giancarlo, Vanderver, Adeline L., Waldman, Amy T., Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L., Escolar, Maria, Aiuti, Alessandro, Gelb, Michael H.

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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome 由 Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B., Jaffe, Nicole, Yum, Sabrina W., Collins, Abigail, Keller, Stephanie R., Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine

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Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders 由 Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies 由 Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, Leslie, Jaffe, Nicole, Joseph, Christopher, Karpinski, Mary, Keller, Stephanie, Maddock, Ryan, Mancilla, Edna, McClary, Bruce, Mertz, Jana, Morgart, Kiley, Langan, Thomas, Leventer, Richard, Parikh, Sumit, Pizzino, Amy, Prange, Erin, Renaud, Deborah L., Rizzo, William, Shapiro, Jay, Suhr, Dean, Suhr, Teryn, Tonduti, Davide, Waggoner, Jacque, Waldman, Amy, Wolf, Nicole I., Zerem, Ayelet, Bonkowsky, Joshua L., Bernard, Genevieve, van Haren, Keith, Vanderver, Adeline

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 由 Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco

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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients 由 Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.

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