المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/59x2g1gf

المؤلفون: Carvalho, Claudia M. B.^Aff1, Coban-Akdemir, Zeynep, Hijazi, Hadia, Yuan, Bo, Pendleton, Matthew, Harrington, Eoghan, Beaulaurier, John, Juul, Sissel^{Aff2, Aff3}, Turner, Daniel J., Kanchi, Rupa S., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A.^{Aff1, Aff6}, Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz, Pawel, Belmont, John W.^{Aff1, Aff7}, Shaw, Chad A., Cheung, Sau Wai, Hanchard, Neil A., Sutton, V. Reid^{Aff1, Aff8}, Bader, Patricia I., Lupski, James R.^{Aff1, Aff6, Aff7, Aff8}

المصدر: Genome Medicine. 11(1)

المؤلفون: Ishibashi, Minaka, Manning, Elizabeth, Shoubridge, Cheryl, Krecsmarik, Monika, Hawkins, Thomas A., Giacomotto, Jean, Zhao, Ting, Mueller, Thomas, Bader, Patricia I., Cheung, Sau W., Stankiewicz, Pawel, Bain, Nicole L., Hackett, Anna, Reddy, Chilamakuri C. S., Mechaly, Alejandro S., Peers, Bernard, Wilson, Stephen W., Lenhard, Boris, Bally-Cuif, Laure, Gecz, Jozef, Becker, Thomas S., Rinkwitz, Silke

المصدر: Human Genetics. November 2015 134(11-12):1163-1182

المؤلفون: Ballif, Blake C., Rosenfeld, Jill A., Traylor, Ryan, Theisen, Aaron, Bader, Patricia I., Ladda, Roger L., Sell, Susan L., Steinraths, Michelle, Surti, Urvashi, McGuire, Marianne, Williams, Shelley, Farrell, Sandra A., Filiano, James, Schnur, Rhonda E., Coffey, Lauren B., Tervo, Raymond C., Stroud, Tracy, Marble, Michael, Netzloff, Michael, Hanson, Kristen, Aylsworth, Arthur S., Bamforth, J. S., Babu, Deepti, Niyazov, Dmitriy M., Ravnan, J. Britt, Schultz, Roger A., Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., Shaffer, Lisa G.

المصدر: Human Genetics. January 2012 131(1):145-156

المؤلفون: Moore, Elizabeth S., Ward, Richard E., Jamison, Paul L., Morris, Colleen A., Bader, Patricia I., Hall, Bryan D.

المصدر: In The Journal of Pediatrics August 2001 139(2):215-219

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المؤلفون: Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E. N. I., van Spaendonk, Rosalina M. L., Shen, Yiping, Wu, Bai-Lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, BULK, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Bjorn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.

المصدر: American Journal of Human Genetics, 92 (2), 210-20 (2013)

مصطلحات موضوعية: Adolescent, Adult, Amino Acid Sequence, Animals, Base Sequence, Child, Child, Preschool, Exons/genetics, Facies, Female, Genetic Predisposition to Disease, Humans, Infant, Intellectual Disability/genetics, Male, Molecular Sequence Data, Phenotype, Protein Isoforms/chemistry/genetics, Proteins/chemistry/genetics, Sequence Deletion/genetics, Suppression, Genetic, Syndrome, Young Adult, Zebrafish/embryology/genetics, Zebrafish Proteins/chemistry/genetics, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:0002-9297; urn:issn:1537-6605

URL الوصول: https://orbi.uliege.be/handle/2268/161524

المؤلفون: Moran, Rocio, Sell, Susan, Stevens, Cathy, Terespolsky, Deborah, Ryan, Shawnia, Fan, Zheng, Girirajan, Santhosh, Moeschler, John B., Passemard, Sandrine, Blumenthal, Ian, Verloes, Alain, Neill, Nicholas J., Mackay-Loder, Loren, Martin, Judith, Vallee, Stephanie E., Rosenfeld, Jill A., Shealy, Amy, Heron-Longe, Bénédicte, Rosenbaum, Kenneth, Benzacken, Brigitte, Bader, Patricia I., Keelean-Fuller, Debra, Jones, Marilyn C., Surti, Urvashi, Delahaye, Andrée, Ladda, Roger, Talkowski, Michael E., Pouncey, Jill, Madan-Khetarpal, Suneeta, Pipiras, Eva, Lamb, Allen N., McConnell, Juliann

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2a65ac51b50fd8d224cb0832510ec7df

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