المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Achondroplasia, Registry, Real-world data, Real-world evidence, Growth, Quality of life, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933Test

المؤلفون: Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Achondroplasia, European Achondroplasia Forum, Adult, Transition, Guiding principles, Management, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/cb46adf9cdcb43049cc7aa6a0929e203Test

المؤلفون: Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Achondroplasia, Diagnosis, Referral, European Achondroplasia Forum, Guiding Principles, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/c95eaedd27f041c49ac66eb991d82502Test

المؤلفون: Miguel Jacinto, Rui Matos, Inês Alves, Carolina Lemos, Diogo Monteiro, Pedro Morouço, Raul Antunes

المصدر: Sustainability; Volume 14; Issue 8; Pages: 4487

مصطلحات موضوعية: adapted physical activity, physical fitness, physical exercise program, skeletal dysplasia, achondroplasia

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/su14084487Test

الإتاحة: https://doi.org/10.3390/su14084487Test

المؤلفون: Virginia Fano, Martyn T. Cobourne, Patricia Carl-Innig, Michael B. Bober, Melita Irving, Fabio Mazzoleni, Jeffrey W. Campbell, Brigitte Fauroux, Dominic Thompson, Judith P Rossiter, Jenna W. Briddell, Yosha Prasad, Mary C. Theroux, Geert Mortier, Antonio Leiva-Gea, Amaka C. Offiah, Klaus Mohnike, Penny Ireland, James A. Betts, Juan Llerena, Steven Powell, Heather Elphick, Pablo Rosselli, Wagner A.R. Baratela, Therese Hannon, Kenneth W. Martin, Marco Sessa, Natsuo Yasui, Michael Wright, Moira Cheung, Matthew Thomas, Inês Alves, Jonathan Gibbins, Cathleen L. Raggio, Muriel Deladure-Molla, Angelo Selicorni, Lars Hagenäs, Sharon McDonnell, William G. Mackenzie, Morrys Kaisermann, Maria Costanza Meazzini, Svein O. Fredwall, Laura Trespedi, Ravi Savarirayan, Philippe M. Campeau, Mari L. Groves, Valérie Cormier-Daire, Keiichi Ozono, Julie Hoover-Fong, David E. Tunkel, John A. Phillips, Josef Milerad, Silvio Boero, C Wallis, Mariana del Pino

المصدر: Nature reviews : endocrinology
Savarirayan, R, Fredwall, S, Ireland, P, Irving, M D, Thompson, D, Alves, I, Baratela, W A R & Betts, J 2022, ' International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia ', Nature Reviews Endocrinology, vol. 18, no. 3, pp. 173-189 . https://doi.org/10.1038/s41574-021-00595-xTest

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Consensus, Statement (logic), Endocrinology, Diabetes and Metabolism, MEDLINE, Achondroplasia, Endocrinology, Quality of life (healthcare), SDG 3 - Good Health and Well-being, Multidisciplinary approach, Osteogenesis, Medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Intensive care medicine, business.industry, medicine.disease, Life stage, Optimal management, Mutation, Quality of Life, Human medicine, business, Psychosocial

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92a0e0b7d7af07d5222ad5132d6e2dbaTest
https://pubmed.ncbi.nlm.nih.gov/34837063Test

المؤلفون: Jeanne M. Pimenta, Ai Nakamura, Inês Alves, Charlotte Roberts, Marco Sessa, Susana Noval Iruretagoyena, Wayne Pan, Wagner A.R. Baratela, Noboru Niiyama

المصدر: Molecular Genetics and Metabolism. 132:S100

مصطلحات موضوعية: Endocrinology, Nursing, Endocrinology, Diabetes and Metabolism, Perspective (graphical), Genetics, medicine, Achondroplasia, medicine.disease, Psychology, Molecular Biology, Biochemistry, Health administration

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1d25cd3ae717a1da1d1b7a9ccddcc574Test
https://doi.org/10.1016/s1096-7192Test(21)00234-1

المؤلفون: Klaus Mohnike, Moira Cheung, Lars Hagenäs, Inês Alves

المصدر: Bone. 127:499-502

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Foramen magnum, Histology, Surgical approach, Physiology, business.industry, Endocrinology, Diabetes and Metabolism, Attendance, 030209 endocrinology & metabolism, medicine.disease, Bone health, 03 medical and health sciences, Research proposal, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Family medicine, medicine, Achondroplasia, business, Foramen magnum stenosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8145d03f4ce263c1400125656401c44fTest