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1دورية أكاديمية
المؤلفون: Luo, HongyuAff1, IDs1305902303147w_cor1, Lao, Linjiang, Au, Kit Sing, Northrup, Hope, He, Xiao, Forget, Diane, Gauthier, Marie-Soleil, Coulombe, BenoitAff3, Aff4, Bourdeau, IsabelleAff1, Aff5, Aff6, Shi, Wei, Gagliardi, LuciaAff7, Aff8, Aff9, Aff10, Fragoso, Maria Candida Barisson Villares, Peng, Junzheng, Wu, JiangpingAff1, Aff6, Aff12, IDs1305902303147w_cor14
المصدر: Genome Biology. 25(1)
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2دورية أكاديمية
المؤلفون: Bebin, E. Martina, Krueger, Darcy, Sahin, Mustafa, Flamini, Robert, Sergott, Robert C., Cutter, Gary, McPherson, Tarrant, Peri, Kalyani, Krefting, Jessica, Porter, Brenda, Peters, Jurriaan M., Taub, Katherine, Litt, Brian, Wu, Joyce, Lagory, Denise, Korf, Bruce, Messiaen, Ludwig, O'Kelley, Sarah, Biasini, Fred, Byars, Anna, Roberds, Steven L., Rushing, Gabrielle, Griffith, Molly, Davis, Peter, Hansen, Ellen, Arcasoy, Emine, Phillips, Jennifer, Solidum, Rayann, Rajaraman, Rajsekar, Gulsrud, Amanda, Solis, Natalie, Randle, Stephanie, Patrick, Kristina, Lee-Eng, Jacqueline, Frost, Mike D., Branson, Janet, Ellis, Sarah, Wong, Michael, White, Desiree, Novak, Olga, Fasciola, Ashley, Werner, Klaus, Lorenzi, Jill, Layer, Marcus, Thomas, Allison, Chanbers, Emily, McClintock, William M., Berl, Madison, Elling, Nancy, Kassoff, Bergen, Hardie, Kinaya, Nolan, Danielle, DeBastos, Angela, Batchelder, Christine, Koening, Mary Kay, Northrup, Hope, Au, Kit Su, Pearson, Deborah, Mansour, Rosleen, Farach, Laura, Salazar, Elida, Farach, Laura S., Richard, Melissa A., Wulsin, Aynara C., Bebin, Elizabeth M., Krueger, Darcy A., Porter, Brenda E., McPherson, Tarrant O., Taub, Katherine S., Randle, Stephanie C., Koenig, Mary Kay, Frost, Michael D., Nolan, Danielle A., Au, Kit Sing
المصدر: In Pediatric Neurology October 2024 159:62-71
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3دورية أكاديمية
المؤلفون: Farach, Laura S., Northrup, Hope, Nellist, Mark, van Unen, Leontine, Hillman, Paul, Klonowska, Katarzyna, Ekong, Rosemary, Crino, Peter B., Au, Kit Sing
المصدر: In Gene 15 August 2023 877
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4دورية أكاديمية
المؤلفون: Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio
المصدر: In The American Journal of Human Genetics 4 May 2023 110(5):790-808
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5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: Davis, Peter E, Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M, Au, Kit Sing, Northrup, Hope, Bebin, E Martina, Wu, Joyce Y, Krueger, Darcy, Sahin, Mustafa
المصدر: Pediatrics. 140(6)
مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Clinical Research, Neurosciences, Tuberous Sclerosis, Epilepsy, Perinatal Period - Conditions Originating in Perinatal Period, 7.3 Management and decision making, Management of diseases and conditions, Female, Humans, Infant, Longitudinal Studies, Male, Prevalence, Prospective Studies, Tuberous Sclerosis Complex Autism Center of Excellence Research Network, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/7xh8w6dz
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Khare, Leena, Strizheva, Galina D, Bailey, Julia N, Au, Kit-Sing, Northrup, Hope, Smith, Moyra, Smalley, Susan L, Henske, Elizabeth Petri
المصدر: Journal of Medical Genetics. 38(5)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Base Sequence, Exons, GTPase-Activating Proteins, Genes, Dominant, Humans, Mental Disorders, Mutation, Missense, Polymorphism, Single-Stranded Conformational, Repressor Proteins, Sequence Homology, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins, guanosine triphosphatase activating protein, clinical article, exon, human, letter, missense mutation, priority journal, tuberous sclerosis, Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5jv3t9fh
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10دورية أكاديمية
المؤلفون: Au, Kit Sing, Ashley-Koch, Allison, Northrup, Hope
المصدر: Developmental Disabilities Research Reviews. 2010 16(1):6-15.
Peer Reviewed: Y
Page Count: 10