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: 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

الوصول الحر: https://escholarship.org/uc/item/3kj4g39sTest

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, Huson, Susan M., Wolkenstein, Pierre, Evans, D. Gareth, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Gomes, Alicia, Halliday, Dorothy, Helen Hanson Arvid Heiberg, Chris Hammond, Joly, Pascal, Jordan, Justin T.

المصدر: Genetics in Medicine ; volume 24, issue 9, page 1967-1977 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://api.elsevier.com/content/article/PII:S1098360022007730?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022007730?httpAccept=text/plainTest

المؤلفون: Smith, Miriam J., Huson, Susan M., Evans, D. Gareth

المصدر: Smith , M J , Huson , S M , Evans , D G & et al. 2022 , ' Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation ' , Genetics in Medicine .

الإتاحة: https://research.manchester.ac.uk/en/publications/96c603c4-273d-4d0e-b8ee-90aacf3443eaTest

المؤلفون: Lehtonen, Annukka, Garg, Shruti, Roberts, Stephen A, Trump, Dorothy, Evans, D Gareth, Green, Jonathan, Huson, Susan M

المساهمون: Central Manchester University Hospitals NHS Foundation Trust, Manchester Biomedical Research Centre

المصدر: Developmental Medicine & Child Neurology ; volume 57, issue 7, page 645-651 ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/dmcn.12734Test

المؤلفون: Keppler‐Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham, John M., Geer, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

المساهمون: Intramural Research Program of the National Human Genome Research Institute, Wellcome Trust (Senior Research Fellowship in Clinical Science), Clinical Research Training Fellowship, UK National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, UK Medical Research Council Centre for Obesity and Related Metabolic Diseases

المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 7, page 1713-1733 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36552Test

المؤلفون: Evans, D Gareth R, O'Hara, Catherine, Wilding, Anna, Ingham, Sarah L, Howard, Elizabeth, Dawson, John, Moran, Anthony, Scott-Kitching, Vilka, Holt, Felicity, Huson, Susan M

المصدر: European Journal of Human Genetics ; volume 21, issue 9, page 1031-1031 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2013.121Test
http://www.nature.com/articles/ejhg2013121.pdfTest
http://www.nature.com/articles/ejhg2013121Test

المؤلفون: Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R

المصدر: Journal of Medical Genetics ; volume 50, issue 9, page 606-613 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2013-101648Test

المؤلفون: Wilding, Anna, Ingham, Sarah Louise, Lalloo, Fiona, Clancy, Tara, Huson, Susan M, Moran, Anthony, Evans, D Gareth

مصطلحات موضوعية: Cancer genetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/49/4/264Test; http://dx.doi.org/10.1136/jmedgenet-2011-100562Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100562Test
http://jmg.bmj.com/cgi/content/short/49/4/264Test

المؤلفون: GARG, SHRUTI, LEHTONEN, ANNUKKA, HUSON, SUSAN M, EMSLEY, RICHARD, TRUMP, DOROTHY, EVANS, D GARETH, GREEN, JONATHAN

المصدر: Developmental Medicine & Child Neurology ; volume 55, issue 2, page 139-145 ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/dmcn.12043Test