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المؤلفون: Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel

المصدر: Genetics in Medicine. 22(3)

مصطلحات موضوعية: Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14x4x4wp

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: Ichikawa, Shoji, Yergert, Katie, Gasser, Brooklynn, Towne, Meghan, Burow, Dana

المصدر: In Genetics in Medicine Open 2024 2 Supplement 1

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(8):1897-1898

المؤلفون: Reilly, Austin M., Gray, Amie K., Moe, Sharon M., Ichikawa, Shoji

المصدر: In Bone October 2014 67:139-144

المؤلفون: Alam, Imranul, Padgett, Leah R., Ichikawa, Shoji, Alkhouli, Mohammed, Koller, Daniel L., Lai, Dongbing, Peacock, Munro, Xuei, Xiaoling, Foroud, Tatiana, Edenberg, Howard J., Econs, Michael J.

المصدر: In Bone July 2014 64:166-172

المؤلفون: Alam, Imranul, Gray, Amie K., Chu, Kang, Ichikawa, Shoji, Mohammad, Khalid S., Capannolo, Marta, Capulli, Mattia, Maurizi, Antonio, Muraca, Maurizio, Teti, Anna, Econs, Michael J., Del Fattore, Andrea

المصدر: In Bone February 2014 59:66-75

المؤلفون: Ichikawa, Shoji, Tuchman, Shamir, Padgett, Leah R., Gray, Amie K., Baluarte, H. Jorge, Econs, Michael J.

المصدر: In Bone February 2014 59:53-56

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