المؤلفون: Ferreira, CR, Zein, WM, Huryn, LA, Merker, A, Berger, SI, Wilson, WG, Tiller, GE, Wolfe, LA, Merideth, M, Carvalho, DR, Duker, AL, Bratke, H, Haug, MG, Rohena, L, Hove, HB, Xia, ZJ, Ng, BG, Freeze, HH, Gabriel, M, Russi, AHS, Brick, L, Kozenko, M, Earl, DL, Tham, E, Nishimura, G, Phillips, JA, Gahl, WA, Hamid, R, Jackson, AP, Grigelioniene, G, Bober, MB

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(5):857-866

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142787239Test

المؤلفون: Ferreira, CR, Xia, ZJ, Clement, A, Parry, DA, Davids, M, Taylan, F, Sharma, P, Turgeon, CT, Blanco-Sanchez, B, Ng, BG, Logan, CV, Wolfe, LA, Solomon, BD, Cho, MT, Douglas, G, Carvalho, DR, Bratke, H, Haug, MG, Phillips, JB, Wegner, J, Tiemeyer, M, Aoki, K, Nordgren, A, Hammarsjo, A, Duker, AL, Rohena, L, Hove, HB, Ek, J, Adams, D, Tifft, CJ, Onyekweli, T, Weixel, T, Macnamara, E, Radtke, K, Powis, Z, Earl, D, Gabriel, M, Russi, AHS, Brick, L, Kozenko, M, Tham, E, Raymond, KM, Phillips, JA, Tiller, GE, Wilson, WG, Hamid, R, Malicdan, MCV, Nishimura, G, Grigelioniene, G, Jackson, A, Westerfield, M, Bober, MB, Gahl, WA, Freeze, HH

المصدر: American journal of human genetics. 103(4):553-567

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:139252419Test

المؤلفون: Savarirayan, R, Ireland, P, Irving, M, Thompson, D, Alves, I, Baratela, WAR, Betts, J, Bober, MB, Boero, S, Briddell, J, Campbell, J, Campeau, PM, Carl-Innig, P, Cheung, MS, Cobourne, M, Cormier-Daire, V, Deladure-Molla, M, del Pino, M, Elphick, H, Fano, V, Fauroux, B, Gibbins, J, Groves, ML, Hagenas, L, Hannon, T, Hoover-Fong, J, Kaisermann, M, Leiva-Gea, A, Llerena, J, Mackenzie, W, Martin, K, Mazzoleni, F, McDonnell, S, Meazzini, MC, Milerad, J, Mohnike, K, Mortier, GR, Offiah, A, Ozono, K, Phillips, JA, Powell, S, Prasad, Y, Raggio, C, Rosselli, P, Rossiter, J, Selicorni, A, Sessa, M, Theroux, M, Thomas, M, Trespedi, L, Tunkel, D, Wallis, C, Wright, M, Yasui, N, Fredwall, SO

المصدر: Nature reviews. Endocrinology. 18(3):173-189

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:148168299Test

المؤلفون: Savarirayan, R, De Bergua, JM, Arundel, P, McDevitt, H, Cormier-Daire, V, Saraff, V, Skae, M, Delgado, B, Leiva-Gea, A, Santos-Simarro, F, Salles, JP, Nicolino, M, Rossi, M, Kannu, P, Bober, MB, Phillips, J, Saal, H, Harmatz, P, Burren, C, Gotway, G, Cho, T, Muslimova, E, Weng, R, Rogoff, D, Hoover-Fong, J, Irving, M

العلاقة: pii: 10.1177_1759720X221084848; Savarirayan, R., De Bergua, J. M., Arundel, P., McDevitt, H., Cormier-Daire, V., Saraff, V., Skae, M., Delgado, B., Leiva-Gea, A., Santos-Simarro, F., Salles, J. P., Nicolino, M., Rossi, M., Kannu, P., Bober, M. B., Phillips, J., Saal, H., Harmatz, P., Burren, C. ,. Irving, M. (2022). Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. THERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE, 14, https://doi.org/10.1177/1759720X221084848Test.; http://hdl.handle.net/11343/307122Test

الإتاحة: https://doi.org/10.1177/1759720X221084848Test
http://hdl.handle.net/11343/307122Test

المؤلفون: Savarirayan, R, Irving, M, Harmatz, P, Delgado, B, Wilcox, WR, Philips, J, Owen, N, Bacino, CA, Tofts, L, Charrow, J, Polgreen, LE, Hoover-Fong, J, Arundel, P, Ginebreda, I, Saal, HM, Basel, D, Font, RU, Ozono, K, Bober, MB, Cormier-Daire, V, Le Quan Sang, K-H, Baujat, G, Alanay, Y, Rutsch, F, Hoernschemeyer, D, Mohnike, K, Mochizuki, H, Tajima, A, Kotani, Y, Weaver, DD, White, KK, Army, C, Larrimore, K, Gregg, K, Jeha, G, Milligan, C, Fisheleva, E, Huntsman-Labed, A, Day, J

العلاقة: pii: S1098-3600(22)00906-6; Savarirayan, R., Irving, M., Harmatz, P., Delgado, B., Wilcox, W. R., Philips, J., Owen, N., Bacino, C. A., Tofts, L., Charrow, J., Polgreen, L. E., Hoover-Fong, J., Arundel, P., Ginebreda, I., Saal, H. M., Basel, D., Font, R. U., Ozono, K., Bober, M. B. ,. Day, J. (2022). Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genet Med, 24 (12), pp.2444-2452. https://doi.org/10.1016/j.gim.2022.08.015Test.; http://hdl.handle.net/11343/322234Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.08.015Test
http://hdl.handle.net/11343/322234Test

المؤلفون: Raggio, C, Wekre, LL, Bober, MB, Semler, O, Westerheim, I, Hart, T, van Welzenis, T, Hawthorne, R, Prince, S, Rauch, F

المصدر: Value in Health ; volume 25, issue 12, page S401 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2022.09.1995Test
https://api.elsevier.com/content/article/PII:S1098301522042000?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301522042000?httpAccept=text/plainTest

المؤلفون: Bober, MB, Wekre, LL, Raggio, C, Semler, O, Westerheim, I, Hart, T, van Welzenis, T, Rapoport, M, Leiras, C, Rauch, F

المصدر: Value in Health ; volume 25, issue 12, page S396 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2022.09.1967Test
https://api.elsevier.com/content/article/PII:S1098301522041729?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301522041729?httpAccept=text/plainTest

المؤلفون: Savarirayan, R, Tofts, L, Irving, M, Wilcox, W, Bacino, CA, Hoover-Fong, J, Font, RU, Harmatz, P, Rutsch, F, Bober, MB, Polgreen, L, Ginebreda, I, Mohnike, K, Charrow, J, Hoernschemeyer, D, Ozono, K, Alanay, Y, Arundel, P, Kagami, S, Yasui, N, White, K, Saal, H, Leiva-Gea, A, Luna-González, F, Mochizuki, H, Basel, D, Porco, D, Jayaram, K, Fisheleva, E, Han, L, Day, J

العلاقة: Savarirayan, R., Tofts, L., Irving, M., Wilcox, W., Bacino, C. A., Hoover-Fong, J., Font, R. U., Harmatz, P., Rutsch, F., Bober, M. B., Polgreen, L., Ginebreda, I., Mohnike, K., Charrow, J., Hoernschemeyer, D., Ozono, K., Alanay, Y., Arundel, P., Kagami, S. ,. Day, J. (2021). Persistent and Stable Growth Promoting Effects of Vosoritide in Children With Achondroplasia for up to 2 Years: Results From the Ongoing Phase 3 Extension Study. Journal of the Endocrine Society, 5 (Supplement_1), pp.A670-A671. https://doi.org/10.1210/jendso/bvab048.1368Test.; http://hdl.handle.net/11343/301598Test

الإتاحة: https://doi.org/10.1210/jendso/bvab048.1368Test
http://hdl.handle.net/11343/301598Test

المؤلفون: Savarirayan, R, Tofts, L, Irving, M, Wilcox, WR, Bacino, CA, Hoover-Fong, J, Font, RU, Harmatz, P, Rutsch, F, Bober, MB, Polgreen, LE, Ginebreda, I, Mohnike, K, Charrow, J, Hoernschemeyer, D, Ozono, K, Alanay, Y, Arundel, P, Kotani, Y, Yasui, N, White, KK, Saal, HM, Leiva-Gea, A, Luna-Gonzalez, F, Mochizuki, H, Basel, D, Porco, DM, Jayaram, K, Fisheleva, E, Huntsman-Labed, A, Day, JRS

العلاقة: pii: S1098-3600(21)05439-3; Savarirayan, R., Tofts, L., Irving, M., Wilcox, W. R., Bacino, C. A., Hoover-Fong, J., Font, R. U., Harmatz, P., Rutsch, F., Bober, M. B., Polgreen, L. E., Ginebreda, I., Mohnike, K., Charrow, J., Hoernschemeyer, D., Ozono, K., Alanay, Y., Arundel, P., Kotani, Y. ,. Day, J. R. S. (2021). Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. GENETICS IN MEDICINE, 23 (12), pp.2443-2447. https://doi.org/10.1038/s41436-021-01287-7Test.; http://hdl.handle.net/11343/287664Test

الإتاحة: https://doi.org/10.1038/s41436-021-01287-7Test
http://hdl.handle.net/11343/287664Test

المؤلفون: Savarirayan, R, Tunkel, DE, Sterni, LM, Bober, MB, Cho, T-J, Goldberg, MJ, Hoover-Fong, J, Irving, M, Kamps, SE, Mackenzie, WG, Raggio, C, Spencer, SA, Bompadre, V, White, KK

العلاقة: pii: 10.1186/s13023-021-01678-8; Savarirayan, R., Tunkel, D. E., Sterni, L. M., Bober, M. B., Cho, T. -J., Goldberg, M. J., Hoover-Fong, J., Irving, M., Kamps, S. E., Mackenzie, W. G., Raggio, C., Spencer, S. A., Bompadre, V. & White, K. K. (2021). Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. ORPHANET JOURNAL OF RARE DISEASES, 16 (1), https://doi.org/10.1186/s13023-021-01678-8Test.; http://hdl.handle.net/11343/272597Test

الإتاحة: https://doi.org/10.1186/s13023-021-01678-8Test
http://hdl.handle.net/11343/272597Test