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1دورية أكاديمية
المؤلفون: de Blank, Peter MK, Gross, Andrea M, Akshintala, Srivandana, Blakeley, Jaishri O, Bollag, Gideon, Cannon, Ashley, Dombi, Eva, Fangusaro, Jason, Gelb, Bruce D, Hargrave, Darren, Kim, AeRang, Klesse, Laura J, Loh, Mignon, Martin, Staci, Moertel, Christopher, Packer, Roger, Payne, Jonathan M, Rauen, Katherine A, Rios, Jonathan J, Robison, Nathan, Schorry, Elizabeth K, Shannon, Kevin, Stevenson, David A, Stieglitz, Elliot, Ullrich, Nicole J, Walsh, Karin S, Weiss, Brian D, Wolters, Pamela L, Yohay, Kaleb, Yohe, Marielle E, Widemann, Brigitte C, Fisher, Michael J
المصدر: Neuro-Oncology. 24(11)
مصطلحات موضوعية: Neurosciences, Neurofibromatosis, Rare Diseases, Cancer, Pediatric, Child, Humans, Consensus, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Neurofibromatosis 1, Protein Kinase Inhibitors, low-grade glioma, MEK inhibitors, neurofibromatosis type 1, plexiform neurofibromas, RASopathy, Oncology and Carcinogenesis, Oncology & Carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/68v541w1Test
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2دورية أكاديمية
المؤلفون: Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A, Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J, Friedman, Jan M, Gutmann, David H, Kehrer-Sawatzki, Hildegard, Korf, Bruce R, Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A, Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A, Tadini, Gianluca, Ullrich, Nicole J, Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M, Evans, D Gareth, Plotkin, Scott R
المصدر: Genetics in Medicine. 23(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Rare Diseases, Clinical Research, Neurofibromatosis, Cafe-au-Lait Spots, Consensus, Genetic Testing, Humans, Neurofibromatosis 1, International Consensus Group on Neurofibromatosis Diagnostic Criteria, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7j03w3x3Test
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3دورية أكاديمية
المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen BM, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M
المصدر: Genetics in Medicine. 21(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Rare Diseases, Neurofibromatosis, Clinical Research, Neurosciences, Brain Disorders, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Learning Disabilities, Male, Mutation, Missense, Neurofibroma, Plexiform, Neurofibromatosis 1, Neurofibromin 1, Sequence Deletion, Young Adult, NF1, p.Met992del, genotype-phenotype correlation, neurofibroma, learning difficulties, genotype–phenotype correlation, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8m17h094Test
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4دورية أكاديمية
المؤلفون: Payne, Jonathan M, Barton, Belinda, Ullrich, Nicole J, Cantor, Alan, Hearps, Stephen JC, Cutter, Gary, Rosser, Tena, Walsh, Karin S, Gioia, Gerard A, Wolters, Pamela L, Tonsgard, James, Schorry, Elizabeth, Viskochil, David, Klesse, Laura, Fisher, Michael, Gutmann, David H, Silva, Alcino J, Hunter, Scott J, Rey-Casserly, Celiane, Cantor, Nancy L, Byars, Anna W, Stavinoha, Peter L, Ackerson, Joseph D, Armstrong, Carol L, Isenberg, Jill, O'Neil, Sharon H, Packer, Roger J, Korf, Bruce, Acosta, Maria T, North, Kathryn N
المصدر: Neurology. 87(24)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Pediatric, Behavioral and Social Science, Clinical Trials and Supportive Activities, Mental Health, Neurofibromatosis, Clinical Research, Rehabilitation, Rare Diseases, Basic Behavioral and Social Science, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Attention, Attention Deficit Disorder with Hyperactivity, Double-Blind Method, Executive Function, Female, Humans, Learning, Lovastatin, Male, Neurofibromatosis 1, Neuropsychological Tests, Quality of Life, NF Clinical Trials Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/26876328Test
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5دورية أكاديمية
المؤلفون: Wolters, Pamela L, Martin, Staci, Merker, Vanessa L, Tonsgard, James H, Solomon, Sondra E, Baldwin, Andrea, Bergner, Amanda L, Walsh, Karin, Thompson, Heather L, Gardner, Kathy L, Hingtgen, Cynthia M, Schorry, Elizabeth, Dudley, William N, Franklin, Barbara
المصدر: Neurology. 87(7_Supplement_1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Chronic Pain, Neurosciences, Pain Research, Clinical Trials and Supportive Activities, Good Health and Well Being, Clinical Trials as Topic, Disability Evaluation, Humans, Neurofibromatoses, Pain, Pain Measurement, Patient Reported Outcome Measures, Self Report, REiNS International Collaboration, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7vr8t379Test
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6دورية أكاديمية
المؤلفون: Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E
المصدر: Nature genetics. 47(8)
مصطلحات موضوعية: COS Cells, Embryo, Nonmammalian, Animals, Animals, Genetically Modified, Zebrafish, Humans, Optic Atrophy, Autosomal Dominant, Charcot-Marie-Tooth Disease, Genetic Predisposition to Disease, Phosphate Transport Proteins, Muscle Proteins, Saccharomyces cerevisiae Proteins, Membrane Proteins, Mitochondrial Proteins, Microscopy, Confocal, Microscopy, Electron, Transmission, Pedigree, Sequence Analysis, DNA, RNA Interference, Protein Binding, Mutation, Female, Male, Mitochondrial Membranes, HEK293 Cells, Exome, Chlorocebus aethiops, Brain Disorders, Genetics, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, Neurological, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2ft7n3zkTest
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7دورية أكاديمية
المؤلفون: Widemann, Brigitte C, Acosta, Maria T, Ammoun, Sylvia, Belzberg, Allan J, Bernards, Andre, Blakeley, Jaishri, Bretscher, Antony, Cichowski, Karen, Clapp, D Wade, Dombi, Eva, Evans, Gareth D, Ferner, Rosalie, Fernandez‐Valle, Cristina, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Hanemann, C Oliver, Hennigan, Robert, Huson, Susan, Ingram, David, Kissil, Joe, Korf, Bruce R, Legius, Eric, Packer, Roger J, McClatchey, Andrea I, McCormick, Frank, North, Kathryn, Pehrsson, Minja, Plotkin, Scott R, Ramesh, Vijaya, Ratner, Nancy, Schirmer, Susann, Sherman, Larry, Schorry, Elizabeth, Stevenson, David, Stewart, Douglas R, Ullrich, Nicole, Bakker, Annette C, Morrison, Helen
المصدر: American Journal of Medical Genetics Part A. 164(3)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Cancer, Genetics, Neurosciences, Neurofibromatosis, Pediatric Research Initiative, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Humans, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Skin Neoplasms, neurofibromatosis type 1, neurofibromatosis type 2, NF1, NF2, schwannomatosis, tumor suppressor, SMARCB1, merlin neurofibromin, preclinical models, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2694n4rgTest