المؤلفون: Fehlings, Darcy L.^{Aff1, Aff2}, Zarrei, Mehdi^{Aff3, Aff4}, Engchuan, Worrawat, Sondheimer, Neal^{Aff2, Aff4, Aff5}, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R.^{Aff3, Aff4}, Higginbotham, Edward J.^{Aff3, Aff6}, Thapa, Ritesh, Behlim, Tarannum, Aimola, Sabrina, Switzer, Lauren, Ng, Pamela, Wei, John, Danthi, Prakroothi S., Pellecchia, Giovanna, Lamoureux, Sylvia, Ho, Karen, Pereira, Sergio L., de Rijke, Jill, Sung, Wilson W. L.^{Aff3, Aff4}, Mowjoodi, Alireza^{Aff3, Aff4}, Howe, Jennifer L., Nalpathamkalam, Thomas, Manshaei, Roozbeh^{Aff3, Aff8}, Ghaffari, Siavash^{Aff3, Aff4}, Whitney, Joseph, Patel, Rohan V., Hamdan, Omar, Shaath, Rulan, Trost, Brett^{Aff3, Aff4}, Knights, Shannon^{Aff2, Aff9}, Samdup, Dawa, McCormick, Anna, Hunt, Carolyn, Kirton, Adam, Kawamura, Anne^{Aff1, Aff2}, Mesterman, Ronit, Gorter, Jan Willem, Dlamini, Nomazulu^{Aff2, Aff14, Aff15}, Merico, Daniele^{Aff3, Aff16, Aff31}, Hilali, Murto, Hirschfeld, Kyle, Grover, Kritika, Bautista, Nelson X., Han, Kara, Marshall, Christian R., Yuen, Ryan K. C.^{Aff3, Aff4, Aff5}, Subbarao, Padmaja^{Aff2, Aff13, Aff17}, Azad, Meghan B., Turvey, Stuart E., Mandhane, Piush, Moraes, Theo J.^{Aff2, Aff21}, Simons, Elinor, Maxwell, George, Shevell, Michael^{Aff7, Aff24}, Costain, Gregory^{Aff2, Aff4, Aff6, Aff25}, Michaud, Jacques L.^{Aff26, Aff27}, Hamdan, Fadi F.^{Aff27, Aff28}, Gauthier, Julie^{Aff27, Aff28}, Uguen, Kevin, Stavropoulos, Dimitri J.^{Aff6, Aff29}, Wintle, Richard F., Oskoui, Maryam^{Aff7, Aff24}, Scherer, Stephen W.^{Aff3, Aff4, Aff30, IDs4158802401686x_cor64}

المصدر: Nature Genetics. 56(4):585-594

المؤلفون: Caron, Véronique, Chassaing, Nicolas, Ragge, Nicola, Boschann, Felix, Ngu, Angelina My-Hoa, Meloche, Elisabeth, Chorfi, Sarah, Lakhani, Saquib A, Ji, Weizhen, Steiner, Laurie, Marcadier, Julien, Jansen, Philip R, van de Pol, Laura A, van Hagen, Johanna M, Russi, Alvaro Serrano, Le Guyader, Gwenaël, Nordenskjöld, Magnus, Nordgren, Ann, Anderlid, Britt-Marie, Plaisancié, Julie, Stoltenburg, Corinna, Horn, Denise, Drenckhahn, Anne, Hamdan, Fadi F, Lefebvre, Mathilde, Attie-Bitach, Tania, Forey, Peggy, Smirnov, Vasily, Ernould, Françoise, Jacquemont, Marie-Line, Grotto, Sarah, Alcantud, Alberto, Coret, Alicia, Ferrer-Avargues, Rosario, Srivastava, Siddharth, Vincent-Delorme, Catherine, Romoser, Shelby, Safina, Nicole, Saade, Dimah, Lupski, James R, Calame, Daniel G, Geneviève, David, Chatron, Nicolas, Schluth-Bolard, Caroline, Myers, Kenneth A, Dobyns, William B, Calvas, Patrick, Study, The DDD, Salmon, Caroline, Holt, Richard, Elmslie, Frances, Allaire, Marc, Prigozhin, Daniil M, Tremblay, André, Michaud, Jacques L

المصدر: Genetics in Medicine. 25(8)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Humans, Receptors, Retinoic Acid, Retinoids, Microphthalmos, DDD Study, Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta, Clinical Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/30t610jx

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0m384791

المؤلفون: Srour, Myriam, Caron, Véronique, Pearson, Toni, Nielsen, Sarah B, Lévesque, Sébastien, Delrue, Marie-Ange, Becker, Troy A, Hamdan, Fadi F, Kibar, Zoha, Sattler, Shannon G, Schneider, Michael C, Bitoun, Pierre, Chassaing, Nicolas, Rosenfeld, Jill A, Xia, Fan, Desai, Sonal, Roeder, Elizabeth, Kimonis, Virginia, Schneider, Adele, Littlejohn, Rebecca Okashah, Douzgou, Sofia, Tremblay, André, Michaud, Jacques L

المصدر: Human Mutation. 37(8)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Brain Disorders, Pediatric, Genetics, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Child, Child, Preschool, Dystonic Disorders, Female, Gain of Function Mutation, Humans, Infant, Newborn, Intellectual Disability, Male, Models, Molecular, Movement Disorders, Mutation, Missense, Protein Conformation, Receptors, Retinoic Acid, Transcriptional Activation, retinoic acid, RARB, gain-of-function, movement disorder, developmental delay, intellectual disability, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9m80t7p5

المؤلفون: Burda, Greg, Kolla, Yesh, Dieffenderfer, Jim, Hamdan, Fadi

المصدر: 2010 IEEE International Solid-State Circuits Conference - (ISSCC) Solid-State Circuits Conference Digest of Technical Papers (ISSCC), 2010 IEEE International. :286-287 Feb, 2010

Relation: 2010 IEEE International Solid- State Circuits Conference - (ISSCC)

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المؤلفون: Mignot, Cyril^{Aff1, Aff2}, McMahon, Aoife C., Bar, Claire^{Aff4, Aff5, Aff6}, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline^{Aff1, Aff2}, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu^{Aff9, Aff10}, Edery, Patrick^{Aff11, Aff12, Aff13}, Marzin, Pauline, Barcia, Giulia^{Aff5, Aff6, Aff14}, Barnerias, Christine, Besmond, Claude^{Aff5, Aff6}, Bienvenu, Thierry^{Aff16, Aff17}, Bruel, Ange-Line^{Aff18, Aff19}, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena^{Aff26, Aff27}, Gauthier, Julie, Geneviève, David^{Aff22, Aff28}, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence^{Aff5, Aff6}, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné^{Aff18, Aff40}, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure^{Aff43, Aff44}, Munnich, Arnold^{Aff5, Aff6, Aff14}, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey^{Aff11, Aff12, Aff13}, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline^{Aff50, Aff51, Aff52}, Soblet, Julie^{Aff50, Aff51, Aff52}, Smits, Guillaume^{Aff50, Aff51, Aff52}, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah^{Aff55, Aff56}, Helbig, Ingo, Villard, Laurent^{Aff10, Aff37}, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S.^{Aff25, Aff26}, Lesca, Gaetan^{Aff11, Aff12, Aff13}, Helbig, Katherine L., Nabbout, Rima^{Aff4, Aff5, Aff6}, Verbeek, Nienke E., Depienne, Christel^{Aff1, Aff57, Aff58}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849

المؤلفون: Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo

المصدر: Brain : a journal of neurology. 145(1):208-223

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology, Pediatrik, Pediatrics

URL الوصول: https://lup.lub.lu.se/record/b695c96e-8b0a-4897-b132-6d4ef5895781
http://dx.doi.org/10.1093/brain/awab299

المؤلفون: Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, LEROY, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigo, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slave, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M., Frankish, Adam

المصدر: npj Genomic Medicine, 4, 31 (2019-12-02)

مصطلحات موضوعية: Medical genomics, Molecular medicine, Human health sciences, Pediatrics, Neurology, Sciences de la santé humaine, Pédiatrie, Neurologie

Relation: urn:issn:2056-7944

URL الوصول: https://orbi.uliege.be/handle/2268/244273

المؤلفون: Boissel, Sarah, Fallet-Bianco, Catherine^{Aff1, Aff2}, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise^{Aff1, Aff5}, Delrue, Marie-Ange^{Aff1, Aff6}, Dal Soglio, Dorothée^{Aff1, Aff2}, Oligny, Luc L^{Aff1, Aff2}, Patey, Natalie^{Aff1, Aff2}, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe^{Aff1, Aff6}, Karalis, Aspasia^{Aff1, Aff6}, Nizard, Sonia^{Aff1, Aff6}, Fraser, William D, Audibert, François^{Aff1, Aff9}, Lemyre, Emmanuelle^{Aff1, Aff6}, Rouleau, Guy A, Hamdan, Fadi F, Kibar, Zoha^{Aff1, Aff11}, Michaud, Jacques L^{Aff1, Aff11}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(7):745-753