المؤلفون: Evans, D. Gareth R, Howell, Anthony, Howell Sacha, J.

المصدر: European Journal of Human Genetics ; volume 31, issue 11, page 1207-1208 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01441-6Test
https://www.nature.com/articles/s41431-023-01441-6.pdfTest
https://www.nature.com/articles/s41431-023-01441-6Test

المؤلفون: Evans, D. Gareth R., van Veen, Elke M., Harkness, Elaine F., Brentnall, Adam R., Astley, Susan M., Byers, Helen, Woodward, Emma R., Sampson, Sarah, Southworth, Jake, Howell, Sacha J., Maxwell, Anthony J., Newman, William G., Cuzick, Jack, Howell, Anthony

المساهمون: National Institute for Health and Care Research, Cancer Research UK, Horizon 2020, Wellcome Trust, Manchester Biomedical Research Centre, Horizon 2020 Framework Programme

المصدر: Genetics in Medicine ; volume 24, issue 7, page 1485-1494 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.03.009Test
https://api.elsevier.com/content/article/PII:S1098360022006992?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022006992?httpAccept=text/plainTest

المؤلفون: Flaum, Nicola, Morgan, Robert D., Burghel, George J., Bulman, Michael, Clamp, Andrew R., Hasan, Jurjees, Mitchell, Claire L., Badea, Doina, Moon, Sarah, Hogg, Martin, Hadjiyiannakis, Dennis, Clancy, Tara, Schlecht, Helene, Woodward, Emma R., Crosbie, Emma J., Edmondson, Richard J., Wallace, Andrew J., Jayson, Gordon C., Lalloo, Fiona I., Harkness, Elaine F., Evans, D. Gareth R.

المصدر: European Journal of Human Genetics ; volume 28, issue 11, page 1541-1547 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-020-0692-yTest
http://www.nature.com/articles/s41431-020-0692-y.pdfTest
http://www.nature.com/articles/s41431-020-0692-yTest

المؤلفون: Evans, D. Gareth R., Kallionpää, Roope A., Clementi, Maurizio, Trevisson, Eva, Mautner, Victor-Felix, Howell, Sacha J., Lewis, Lauren, Zehou, Ouidad, Peltonen, Sirkku, Brunello, Antonella, Harkness, Elaine F., Wolkenstein, Pierre, Peltonen, Juha

المساهمون: NHS England, National Institute for Health Research, Suomen Kulttuurirahasto, Syöpäsäätiö, Turun Yliopistollinen Keskussairaala

المصدر: Genetics in Medicine ; volume 22, issue 2, page 398-406 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-019-0651-6Test
http://www.nature.com/articles/s41436-019-0651-6.pdfTest
http://www.nature.com/articles/s41436-019-0651-6Test
https://api.elsevier.com/content/article/PII:S1098360021012909?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021012909?httpAccept=text/plainTest

المؤلفون: Evans, D. Gareth R., Kallionpää, Roope A., Clementi, Maurizio, Trevisson, Eva, Mautner, Victor-Felix, Howell, Sacha J., Lewis, Lauren, Zehou, Ouidad, Peltonen, Sirkku, Brunello, Antonella, Harkness, Elaine F., Wolkenstein, Pierre, Peltonen, Juha

المصدر: Genetics in Medicine ; volume 22, issue 1, page 242 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-019-0671-2Test
http://www.nature.com/articles/s41436-019-0671-2.pdfTest
http://www.nature.com/articles/s41436-019-0671-2Test
https://api.elsevier.com/content/article/PII:S1098360021011400?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021011400?httpAccept=text/plainTest

المؤلفون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

المساهمون: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M. M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D'Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, Ladonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Areli, Mahoney, Maurice J., Maystadt, Isabelle, Mcdougall, Carey, Mcentagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

مصطلحات موضوعية: codons 844-848, CSRD, genotype-phenotype correlation, missense mutation, MPNST, neurofibromatosis type 1, NF1, plexiform neurofibroma, spinal NF, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29290338; info:eu-repo/semantics/altIdentifier/wos/WOS:000419305500006; volume:102; issue:1; firstpage:69; lastpage:87; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3264121Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85040561423; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://hdl.handle.net/11577/3264121Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest

المؤلفون: Dominguez-Valentin, Mev, Evans, D. Gareth R., Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Martins, Alexandra, Møller, Pål, Hovig, Eivind

المساهمون: Radium Hospital Foundation, Helse Sør-Øst RHF, French Association Recherche contre le Cancer, Groupement des Entreprises Françaises dans la Lutte contre le Cancer, Association Nationale de la Recherche et de la Technologie, OpenHealth Institute

المصدر: Hereditary Cancer in Clinical Practice ; volume 16, issue 1 ; ISSN 1897-4287

مصطلحات موضوعية: Genetics (clinical), Oncology

الإتاحة: https://doi.org/10.1186/s13053-018-0086-0Test

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: Aavikko, Mervi, Li, Song-Ping, Saarinen, Silva, Alhopuro, Pia, Kaasinen, Eevi, Morgunova, Ekaterina, Li, Yilong, Vesanen, Kari, Smith, Miriam J., Evans, D. Gareth R., Pöyhönen, Minna, Kiuru, Anne, Auvinen, Anssi, Aaltonen, Lauri A., Taipale, Jussi, Vahteristo, Pia

المساهمون: Sigrid Juséliuksen Säätiö, Syöpäjärjestöt, Academy of Finland

المصدر: The American Journal of Human Genetics ; volume 91, issue 3, page 520-526 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.07.015Test
https://api.elsevier.com/content/article/PII:S0002929712003722?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712003722?httpAccept=text/plainTest

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 19, issue 11, page 1187-1191 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2011.113Test
http://www.nature.com/articles/ejhg2011113.pdfTest
http://www.nature.com/articles/ejhg2011113Test