المؤلفون: Revencu, N, Eijkelenboom, A, Bracquemart, C, Alhopuro, P, Armstrong, J, Baselga, E, Cesario, C, Dentici, ML, Eyries, M, Frisk, S, Karstensen, HG, Gene-Olaciregui, N, Kivirikko, S, Lavarino, C, Mero, IL, Michiels, R, Pisaneschi, E, Schoenewolf-Greulich, B, Wieland, I, Zenker, M, Vikkula, M

المصدر: Orphanet journal of rare diseases. 19(1):213

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:158280583Test

المؤلفون: Acuna-Hidalgo, R, Schanze, D, Kariminejad, A, Nordgren, A, Kariminejad, MH, Conner, P, Grigelioniene, G, Nilsson, D, Nordenskjold, M, Wedell, A, Freyer, C, Wredenberg, A, Wieczorek, D, Gillessen-Kaesbach, G, Kayserili, H, Elcioglu, N, Ghaderi-Sohi, S, Goodarzi, P, Setayesh, H, van de Vorst, M, Steehouwer, M, Pfundt, R, Krabichler, B, Curry, C, MacKenzie, MG, Boycott, KM, Gilissen, C, Janecke, AR, Hoischen, A, Zenker, M

المصدر: American journal of human genetics. 95(3):285-293

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129677577Test

المؤلفون: Boleti, OD, Roussos, S, Norrish, G, Field, E, Oates, S, Tollit, J, Nepali, G, Bhole, V, Uzun, O, Daubeney, PEF, Stuart, GA, Fernandes, P, McLeod, K, Ilina, M, Liaqath, MNA, Bharucha, T, Delle Donne, G, Brown, E, Linter, K, Khodaghalian, B, Jones, C, Searle, J, Mathur, S, Boyd, N, Reindhardt, Z, Duignan, S, Prendiville, T, Adwani, S, Zenker, M, Wolf, CM, Kaski, JP

المصدر: International Journal of Cardiology , 393 , Article 131405. (2023) (In press).

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Noonan syndrome, Pediatrics, RASopathies, Sudden cardiac death

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179615/1/1-s2.0-S0167527323013980-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179615Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179615/1/1-s2.0-S0167527323013980-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10179615Test/

المؤلفون: Mensah, M., Niskanen, H., Magalhães, A., Basu, S., Kircher, M., Sczakiel, H., Reiter, A., Elsner, J., Meinecke, P., Biskup, S., Chung, B., Dombrowsky, G., Eckmann-Scholz, C., Hitz, M., Hoischen, A., Holterhus, P., Hülsemann, W., Kahrizi, K., Kalscheuer, V., Kan, A., Krumbiegel, M., Kurth, I., Leubner, J., Longardt, A., Moritz, J., Najmabadi, H., Skipalova, K., Snijders Blok, L., Tzschach, A., Wiedersberg, E., Zenker, M., Garcia-Cabau, C., Buschow, R., Salvatella, X., Kraushar, M., Mundlos, S., Caliebe, A., Spielmann, M., Horn, D., Hnisz, D.

المصدر: Nature

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-000C-9EF0-3Test; http://hdl.handle.net/21.11116/0000-000C-9EF2-1Test

الإتاحة: https://doi.org/10.1038/s41586-022-05682-1Test
http://hdl.handle.net/21.11116/0000-000C-9EF0-3Test
http://hdl.handle.net/21.11116/0000-000C-9EF2-1Test

المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857Test

المؤلفون: Pierpont, E.I., Bennett, A.M., Schoyer, L., Stronach, B., Anschutz, A., Borrie, S.C., Wingbermühle, P.A.M., Zenker, M., Andelfinger, G.

المصدر: American Journal of Medical Genetics. Part A, 194, 4

مصطلحات موضوعية: Neuropsychology and rehabilitation psychology, Neuro- en revalidatiepsychologie

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/301844/301844.pdfTest; https://repository.ubn.ru.nl/handle/2066/301844Test

الإتاحة: https://doi.org/10.1002/ajmg.a.63477Test
https://repository.ubn.ru.nl//bitstream/handle/2066/301844/301844.pdfTest
https://repository.ubn.ru.nl/handle/2066/301844Test

المؤلفون: Kontaridis, MI, Roberts, AE, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, ME, Bakker, A, Bennett, AM, Broniscer, A, Castel, P, Chang, CA, Cyganek, L, Das, TK, den Hertog, J, Galperin, E, Garg, S, Gelb, BD, Gordon, K, Green, T, Gripp, KW, Itkin, M, Kiuru, M, Korf, BR, Livingstone, JR, López-Juárez, A, Magoulas, PL, Mansour, S, Milner, T, Parker, E, Pierpont, EI, Plouffe, K, Rauen, KA, Shankar, SP, Smith, SB, Stevenson, DA, Tartaglia, M, Van, R, Wagner, ME, Ware, SM, Zenker, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114220/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Kontaridis%20-%20The%20seventh%20international%20RASopathies%20symposium%20Pathways%20to%20a%20cure.pdfTest; Kontaridis, MI; Roberts, AE; Schill, L; Schoyer, L; Stronach, B; Andelfinger, G; Aoki, Y; Axelrad, ME; Bakker, A; Bennett, AM; et al. Kontaridis, MI; Roberts, AE; Schill, L; Schoyer, L; Stronach, B; Andelfinger, G; Aoki, Y; Axelrad, ME; Bakker, A; Bennett, AM; Broniscer, A; Castel, P; Chang, CA; Cyganek, L; Das, TK; den Hertog, J; Galperin, E; Garg, S; Gelb, BD; Gordon, K; Green, T; Gripp, KW; Itkin, M; Kiuru, M; Korf, BR; Livingstone, JR; López-Juárez, A; Magoulas, PL; Mansour, S; Milner, T; Parker, E; Pierpont, EI; Plouffe, K; Rauen, KA; Shankar, SP; Smith, SB; Stevenson, DA; Tartaglia, M; Van, R; Wagner, ME; Ware, SM; Zenker, M (2022) The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A, 188 (6). pp. 1915-1927. ISSN 1552-4833 https://doi.org/10.1002/ajmg.a.62716Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1002/ajmg.a.62716Test
https://openaccess.sgul.ac.uk/id/eprint/114220Test/
https://openaccess.sgul.ac.uk/id/eprint/114220/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Kontaridis%20-%20The%20seventh%20international%20RASopathies%20symposium%20Pathways%20to%20a%20cure.pdfTest

المؤلفون: Friedrich, R., Gosau, M., Luebke, A., Hagel, C., Kohlrusch, F., Hahn, M., von Kroge, S., Hahn, J., Wieland, I., Zenker, M.

المصدر: In Vivo

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-0009-D1C3-ETest; http://hdl.handle.net/21.11116/0000-0009-D1C5-CTest

الإتاحة: https://doi.org/10.21873/invivo.12701Test
http://hdl.handle.net/21.11116/0000-0009-D1C3-ETest
http://hdl.handle.net/21.11116/0000-0009-D1C5-CTest

المؤلفون: Bögershausen, N., Krawczyk, H., Jamra, R., Lin, S., Yigit, G., Hüning, I., Polo, A., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B., Busche, A., Biskup, S., Mendes, M., Smith, D., Salomons, G., Zibat, A., Bültmann, E., Nürnberg, P., Spielmann, M., Lemke, J., Li, Y., Zenker, M., Varshney, G., Hillen, H., Kratz, C., Wollnik, B.

المصدر: Human Mutations

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/21.11116/0000-000B-2BDE-CTest; http://hdl.handle.net/21.11116/0000-000B-2BE0-8Test

الإتاحة: https://doi.org/10.1002/humu.24430Test
http://hdl.handle.net/21.11116/0000-000B-2BDE-CTest
http://hdl.handle.net/21.11116/0000-000B-2BE0-8Test

المؤلفون: Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

المساهمون: Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T.H., Netchine I., Mastorakos G., Johannsson G., Musholt T.J., Zenker M., Prawitt D., Pereira A.M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

مصطلحات موضوعية: Genetic testing, Imprinting disorder, Rare endocrine condition, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32513286; info:eu-repo/semantics/altIdentifier/wos/WOS:000541092600001; volume:15; issue:1; firstpage:1; lastpage:16; numberofpages:16; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11585/797151Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086356508; https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01420-wTest

الإتاحة: https://doi.org/10.1186/s13023-020-01420-wTest
https://hdl.handle.net/11585/797151Test