المؤلفون: Koczkowska, Magdalena^{Aff1, Aff2, IDs0043902302555z_cor1}, Chen, Yunjia, Xie, Jing^{Aff1, Aff4}, Callens, Tom, Gomes, Alicia, Wimmer, Katharina, Messiaen, Ludwine M.^{Aff1, IDs0043902302555z_cor7}

المصدر: Human Genetics. :1-13

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

URL الوصول: https://escholarship.org/uc/item/7j03w3x3

المؤلفون: Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, Upadhyaya, Meena^{Aff21, IDs41431021010154_cor29}

المصدر: European Journal of Human Genetics. 30(3):291-297

المؤلفون: Rauen, Katherine A, Alsaegh, Abeer, Ben‐Shachar, Shay, Berman, Yemima, Blakeley, Jaishri, Cordeiro, Isabel, Elgersma, Ype, Evans, D Gareth, Fisher, Michael J, Frayling, Ian M, George, Joshi, Huson, Susan M, Kerr, Bronwyn, Khire, Uday, Korf, Bruce, Legius, Eric, Messiaen, Ludwine, van Minkelen, Rick, Nampoothiri, Sheela, Ngeow, Joanne, Parada, Luis F, Phadke, Shubha, Pillai, Ashok, Plotkin, Scott R, Puri, Ratna, Raji, Anup, Ramesh, Vijaya, Ratner, Nancy, Shankar, Suma P, Sharda, Sheetal, Tambe, Anant, Vikkula, Miikka, Widemann, Brigitte C, Wolkenstein, Pierre, Upadhyaya, Meena

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurofibromatosis, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Pediatric, Congenital, Biomarkers, Disease Management, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Mitogen-Activated Protein Kinases, Molecular Diagnostic Techniques, Molecular Targeted Therapy, Neurofibromatoses, Signal Transduction, Translational Research, Biomedical, ras Proteins, clinical trial, neurofibromatoses, RASopathy, signal transduction pathway, therapy, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3kj4g39s

المؤلفون: Ferner, Rosalie E, Bakker, Annette, Elgersma, Ype, Evans, D Gareth R, Giovannini, Marco, Legius, Eric, Lloyd, Alison, Messiaen, Ludwine M, Plotkin, Scott, Reilly, Karlyne M, Schindeler, Aaron, Smith, Miriam J, Ullrich, Nicole J, Widemann, Brigitte, Sherman, Larry S

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Cancer, Rare Diseases, Pediatric, Neurosciences, Neurofibromatosis, Animals, Disease Susceptibility, Humans, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Skin Neoplasms, neurofibromatosis 1, neurofibromatosis 2, schwannomatosis, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6qq4392b

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

URL الوصول: https://escholarship.org/uc/item/8m17h094

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

URL الوصول: https://escholarship.org/uc/item/8m17h094

المؤلفون: Evans, D. Gareth^Aff1, Messiaen, Ludwine M., Foulkes, William D., Irving, Rachel E. A., Murray, Alexandra J., Perez-Becerril, Cristina, Rivera, Barbara, McDonald-McGinn, Donna M.^{Aff6, Aff7}, Stevenson, David A., Smith, Miriam J.

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1779-1782

المؤلفون: Isakson, Sara H, Rizzardi, Anthony E, Coutts, Alexander W, Carlson, Daniel F, Kirstein, Mark N, Fisher, James, Vitte, Jeremie, Williams, Kyle B, Pluhar, G Elizabeth, Dahiya, Sonika, Widemann, Brigitte C, Dombi, Eva, Rizvi, Tilat, Ratner, Nancy, Messiaen, Ludwine, Stemmer-Rachamimov, Anat O, Fahrenkrug, Scott C, Gutmann, David H, Giovannini, Marco, Moertel, Christopher L, Largaespada, David A, Watson, Adrienne L

المصدر: Communications Biology. 1(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Neurofibromatosis, Neurosciences, Brain Disorders, Rare Diseases, Brain Cancer, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5027943n

المؤلفون: Messiaen, Ludwine M.^Aff4

المساهمون: Tadini, Gianluca, editor^Aff1, Legius, Eric, editor^Aff2, Brems, Hilde, editor^Aff3

المصدر: Multidisciplinary Approach to Neurofibromatosis Type 1. :15-34