Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jeanne Pimenta"'
Autor:
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital
Externí odkaz:
https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933
Autor:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify t
Externí odkaz:
https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51
Autor:
Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100261- (2023)
Externí odkaz:
https://doaj.org/article/b35af266ef1c40f58dfe076e08253473
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100365- (2023)
Externí odkaz:
https://doaj.org/article/fc6e2ab13ef44cb6bdc19fddc265c539
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100366- (2023)
Externí odkaz:
https://doaj.org/article/ef0d81935dbd4ae4b558b3f4e822e6b5
Autor:
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike
Publikováno v:
Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2
Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html
Publikováno v:
BMC Pregnancy and Childbirth, Vol 18, Iss 1, Pp 1-14 (2018)
Abstract Background Preterm labour and birth (PTL/PTB) is characterised by major health and developmental risks for children, life–changing consequences for their families, and substantial healthcare and economic challenges for wider society. While
Externí odkaz:
https://doaj.org/article/59170e0df8674d7e83a63b84ba823afe
Publikováno v:
Genetics in Medicine. 24:S167-S168
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5da001508dd7251101f498af98957f2
https://doi.org/10.1016/j.gim.2022.01.300
https://doi.org/10.1016/j.gim.2022.01.300
Autor:
Alanay, Yasemin1 (AUTHOR) yasemin.alanay@acibadem.edu.tr, Mohnike, Klaus2 (AUTHOR), Nilsson, Ola3,4,5 (AUTHOR), Alves, Inês6 (AUTHOR), AlSayed, Moeenaldeen7,8 (AUTHOR), Appelman-Dijkstra, Natasha M.9 (AUTHOR), Baujat, Genevieve10 (AUTHOR), Ben-Omran, Tawfeg11 (AUTHOR), Breyer, Sandra12 (AUTHOR), Cormier-Daire, Valerie10,13 (AUTHOR), Gregersen, Pernille Axél14 (AUTHOR), Guillén-Navarro, Encarna15 (AUTHOR), Högler, Wolfgang16 (AUTHOR), Maghnie, Mohamad17,18 (AUTHOR), Mukherjee, Swati19 (AUTHOR), Cohen, Shelda19 (AUTHOR), Pimenta, Jeanne19 (AUTHOR), Selicorni, Angelo20 (AUTHOR), Semler, J. Oliver21,22 (AUTHOR), Sigaudy, Sabine23 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 6/26/2023, Vol. 18 Issue 1, p1-9. 9p.
Autor:
Maghnie, Mohamad1,2 (AUTHOR), Semler, Oliver3,4 (AUTHOR), Guillen-Navarro, Encarna3,5,6 (AUTHOR), Selicorni, Angelo7 (AUTHOR), Heath, Karen E.3,6,8 (AUTHOR), Haeusler, Gabriele9 (AUTHOR), Hagenäs, Lars3,10 (AUTHOR), Merker, Andrea11 (AUTHOR), Leiva-Gea, Antonio12 (AUTHOR), González, Vanesa López3,5,6 (AUTHOR), Raimann, Adalbert9 (AUTHOR), Rehberg, Mirko3,4 (AUTHOR), Santos-Simarro, Fernando3,8 (AUTHOR), Ertl, Diana-Alexandra9 (AUTHOR), Gregersen, Pernille Axél13 (AUTHOR), Onesimo, Roberta14 (AUTHOR), Landfeldt, Erik15 (AUTHOR), Jarrett, James16 (AUTHOR), Quinn, Jennifer16 (AUTHOR), Rowell, Richard17 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 3/15/2023, Vol. 18 Issue 1, p1-19. 19p.