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

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

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

المؤلفون: Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha, Aylsworth, Arthur, Azizi, Amedeo, Basel, Donald, Bellus, Gary, Bird, Lynne, Blazo, Maria, Burke, Leah, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria, Dills, Shelley, Dosa, Laura, Greenwood, Robert, Griffis, Cristin, Gupta, Punita, Hachen, Rachel, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi, Jordan, Justin, Kannu, Peter, Korf, Bruce, Lewis, Andrea, Listernick, Robert, Lonardo, Fortunato, Mahoney, Maurice, Ojeda, Mayra, McDonald, Marie, McDougall, Carey, Mendelsohn, Nancy, Miller, David, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary, Piscopo, Carmelo, Pond, Dinel, Randolph, Linda, Rauen, Katherine, Rednam, Surya, Rutledge, S, Saletti, Veronica, Schaefer, G, Schorry, Elizabeth, Scott, Daryl, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois, Syed, Ashraf, Trapane, Pamela, Ullrich, Nicole, Wakefield, Emily, Walsh, Laurence, Wangler, Michael, Zackai, Elaine, Claes, Kathleen, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

المصدر: Genetics in Medicine. 21(3)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8m17h094Test

المؤلفون: Doherty, Alexander C., Huddleston, David A., Horn, Paul S., Ratner, Nancy, Simpson, Brittany N., Schorry, Elizabeth K., Aschbacher-Smith, Lindsey, Prada, Carlos E., Gilbert, Donald L.

المصدر: Pediatric Neurology ; volume 143, page 34-43 ; ISSN 0887-8994

مصطلحات موضوعية: Neurology (clinical), Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2023.02.014Test
https://api.elsevier.com/content/article/PII:S0887899423000620?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0887899423000620?httpAccept=text/plainTest

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

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

المؤلفون: Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Wolkenstein, Pierre, Evans, D. Gareth

المصدر: International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC) , Plotkin , S R , Messiaen , L , Legius , E , Pancza , P , Avery , R A , Blakeley , J O , Babovic-Vuksanovic , D , Ferner , R , Fisher , M J , Friedman , J M , Giovannini , M , Gutmann , D H , Hanemann , C O , Kalamarides , M , Kehrer-Sawatzki , H , Korf , B R , Mautner , V F , MacCollin , M , Papi , L , Rauen , K A , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2cTest

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2cTest
https://pure.eur.nl/ws/files/86507007/1_s2.0_S1098360022007730_main.pdfTest
http://www.scopus.com/inward/record.url?scp=85132738125&partnerID=8YFLogxKTest

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

المؤلفون: McMillin, Margaret J, Beck, Anita E, Chong, Jessica X, Shively, Kathryn M, Buckingham, Kati J, Gildersleeve, Heidi IS, Aracena, Mariana I, Aylsworth, Arthur S, Bitoun, Pierre, Carey, John C, Clericuzio, Carol L, Crow, Yanick J, Curry, Cynthia J, Devriendt, Koenraad, Everman, David B, Fryer, Alan, Gibson, Kate, Uzielli, Maria Luisa Giovannucci, Graham, John M, Hall, Judith G, Hecht, Jacqueline T, Heidenreich, Randall A, Hurst, Jane A, Irani, Sarosh, Krapels, Ingrid PC, Leroy, Jules G, Mowat, David, Plant, Gordon T, Robertson, Stephen P, Schorry, Elizabeth K, Scott, Richard H, Seaver, Laurie H, Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G, Weaver, David D, Whiteford, Margo, Williams, Marc S, Tabor, Holly K, Smith, Joshua D, Shendure, Jay, Nickerson, Deborah A, Genomics, University of Washington Center for Mendelian, Bamshad, Michael J

المصدر: American Journal of Human Genetics. 94(5)

مصطلحات موضوعية: Rare Diseases, Human Genome, Genetics, Congenital Structural Anomalies, Pediatric, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Arachnodactyly, Arthrogryposis, Blepharophimosis, Child, Child, Preschool, Cleft Palate, Clubfoot, Connective Tissue Diseases, Contracture, Exome, Female, Hand Deformities, Congenital, Humans, Ion Channels, Male, Mutation, Ophthalmoplegia, Pedigree, Retinal Diseases, University of Washington Center for Mendelian Genomics, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2mm0j4f2Test