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1دورية أكاديمية
المؤلفون: Fehlings, Darcy L.Aff1, Aff2, Zarrei, MehdiAff3, Aff4, Engchuan, Worrawat, Sondheimer, NealAff2, 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, AlirezaAff3, Aff4, Howe, Jennifer L., Nalpathamkalam, Thomas, Manshaei, RoozbehAff3, Aff8, Ghaffari, SiavashAff3, Aff4, Whitney, Joseph, Patel, Rohan V., Hamdan, Omar, Shaath, Rulan, Trost, BrettAff3, Aff4, Knights, ShannonAff2, Aff9, Samdup, Dawa, McCormick, Anna, Hunt, Carolyn, Kirton, Adam, Kawamura, AnneAff1, Aff2, Mesterman, Ronit, Gorter, Jan Willem, Dlamini, NomazuluAff2, Aff14, Aff15, Merico, DanieleAff3, Aff16, Aff31, Hilali, Murto, Hirschfeld, Kyle, Grover, Kritika, Bautista, Nelson X., Han, Kara, Marshall, Christian R., Yuen, Ryan K. C.Aff3, Aff4, Aff5, Subbarao, PadmajaAff2, Aff13, Aff17, Azad, Meghan B., Turvey, Stuart E., Mandhane, Piush, Moraes, Theo J.Aff2, Aff21, Simons, Elinor, Maxwell, George, Shevell, MichaelAff7, Aff24, Costain, GregoryAff2, Aff4, Aff6, Aff25, Michaud, Jacques L.Aff26, Aff27, Hamdan, Fadi F.Aff27, Aff28, Gauthier, JulieAff27, Aff28, Uguen, Kevin, Stavropoulos, Dimitri J.Aff6, Aff29, Wintle, Richard F., Oskoui, MaryamAff7, Aff24, Scherer, Stephen W.Aff3, Aff4, Aff30, IDs4158802401686x_cor64
المصدر: Nature Genetics. 56(4):585-594
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4دورية أكاديمية
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
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5مؤتمر
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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6دورية أكاديمية
المؤلفون: Mignot, CyrilAff1, Aff2, McMahon, Aoife C., Bar, ClaireAff4, Aff5, Aff6, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, CarolineAff1, Aff2, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, MathieuAff9, Aff10, Edery, PatrickAff11, Aff12, Aff13, Marzin, Pauline, Barcia, GiuliaAff5, Aff6, Aff14, Barnerias, Christine, Besmond, ClaudeAff5, Aff6, Bienvenu, ThierryAff16, Aff17, Bruel, Ange-LineAff18, Aff19, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, ElenaAff26, Aff27, Gauthier, Julie, Geneviève, DavidAff22, Aff28, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, LaurenceAff5, Aff6, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, DaphnéAff18, Aff40, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-LaureAff43, Aff44, Munnich, ArnoldAff5, Aff6, Aff14, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, AudreyAff11, 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, CathelineAff50, Aff51, Aff52, Soblet, JulieAff50, Aff51, Aff52, Smits, GuillaumeAff50, Aff51, Aff52, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, SarahAff55, Aff56, Helbig, Ingo, Villard, LaurentAff10, Aff37, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S.Aff25, Aff26, Lesca, GaetanAff11, Aff12, Aff13, Helbig, Katherine L., Nabbout, RimaAff4, Aff5, Aff6, Verbeek, Nienke E., Depienne, ChristelAff1, Aff57, Aff58
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):837-849
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7
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 -
8دورية أكاديمية
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9دورية أكاديمية
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
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10دورية أكاديمية
المؤلفون: Boissel, Sarah, Fallet-Bianco, CatherineAff1, Aff2, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, FrançoiseAff1, Aff5, Delrue, Marie-AngeAff1, Aff6, Dal Soglio, DorothéeAff1, Aff2, Oligny, Luc LAff1, Aff2, Patey, NatalieAff1, Aff2, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, PhilippeAff1, Aff6, Karalis, AspasiaAff1, Aff6, Nizard, SoniaAff1, Aff6, Fraser, William D, Audibert, FrançoisAff1, Aff9, Lemyre, EmmanuelleAff1, Aff6, Rouleau, Guy A, Hamdan, Fadi F, Kibar, ZohaAff1, Aff11, Michaud, Jacques LAff1, Aff11
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(7):745-753