المؤلفون: Funck-Brentano, Thomas, Zillikens, M. Carola, Clunie, Gavin, Siggelkow, Heide, Appelman-Dijkstra, Natasha M., Cohen-Solal, Martine

المصدر: Funck-Brentano , T , Zillikens , M C , Clunie , G , Siggelkow , H , Appelman-Dijkstra , N M & Cohen-Solal , M 2024 , ' Osteopetrosis and related osteoclast disorders in adults : A review and knowledge gapsOn behalf of the European calcified tissue society and ERN BOND ' , European Journal of Medical Genetics , vol. 69 , 104936 . https://doi.org/10.1016/j.ejmg.2024.104936Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/5d2c9256-da66-4ff7-95e1-020386cd95d5Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2024.104936Test
https://pure.eur.nl/en/publications/5d2c9256-da66-4ff7-95e1-020386cd95d5Test
https://pure.eur.nl/ws/files/144445701/Osteopetrosis_and_related_osteoclast_disorders_in_adults.pdfTest
http://www.scopus.com/inward/record.url?scp=85189949291&partnerID=8YFLogxKTest

المؤلفون: Casareto, Lorena, Appelman-Dijkstra, Natasha M., Brandi, Maria Luisa, Chapurlat, Roland, Cormier-Daire, Valérie, Hamdy, Neveen A.T., Heath, Karen E., Horn, Joachim, Mantovani, Giovanna, Mohnike, Klaus, Sousa, Sérgio Bernardo, Travessa, André, Wekre, Lena Lande, Zillikens, M. Carola, Sangiorgi, Luca

المصدر: Casareto , L , Appelman-Dijkstra , N M , Brandi , M L , the European Reference Network on rare BONe Diseases , Chapurlat , R , Cormier-Daire , V , Hamdy , N A T , Heath , K E , Horn , J , Mantovani , G , Mohnike , K , Sousa , S B , Travessa , A , Wekre , L L , Zillikens , M C & Sangiorgi , L 2024 , ' ERN BOND : The key European network leveraging diagnosis, research, and treatment for rare bone conditions ' , European Journal ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/3a9ac147-951d-45bc-99db-53ea7aa98a57Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2024.104916Test
https://pure.eur.nl/en/publications/3a9ac147-951d-45bc-99db-53ea7aa98a57Test
https://pure.eur.nl/ws/files/135415061/1-s2.0-S1769721224000089-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85184005958&partnerID=8YFLogxKTest

المؤلفون: Leerling, Anne T, Smit, Frits, Spӓth, Zita, Cañete, Ana Navas, de Geus-Oei, Lioe-Fee, van de Burgt, Alina, Dekkers, Olaf M, van der Bruggen, Wouter, Appelman-Dijkstra, Natasha M, Vriens, Dennis, Winter, Elizabeth M

المساهمون: ReumaNederland

المصدر: JBMR Plus ; volume 8, issue 2 ; ISSN 2473-4039

الإتاحة: https://doi.org/10.1093/jbmrpl/ziad007Test
https://academic.oup.com/jbmrplus/article-pdf/8/2/ziad007/57406175/ziad007.pdfTest

المؤلفون: Ramautar, Ashna I E, Navas, Ana, Winter, Elizabeth M, Kroon, Herman M, Smit, Frits, Vriens, Dennis, Hamdy, Neveen A T, Appelman-Dijkstra, Natasha M

المصدر: JBMR Plus ; volume 8, issue 5 ; ISSN 2473-4039

الإتاحة: https://doi.org/10.1093/jbmrpl/ziae024Test
https://academic.oup.com/jbmrplus/article-pdf/8/5/ziae024/57360392/ziae024.pdfTest

المؤلفون: Alanay, Yasemin, Mohnike, Klaus, Nilsson, Ola, 1970, Alves, Inês, AlSayed, Moeenaldeen, Appelman-Dijkstra, Natasha M., Baujat, Genevieve, Ben-Omran, Tawfeg, Breyer, Sandra, Cormier-Daire, Valerie, Gregersen, Pernille Axél, Guillén-Navarro, Encarna, Högler, Wolfgang, Maghnie, Mohamad, Mukherjee, Swati, Cohen, Shelda, Pimenta, Jeanne, Selicorni, Angelo, Semler, J. Oliver, Sigaudy, Sabine, Popkov, Dmitry, Sabir, Ian, Noval, Susana, Sessa, Marco, Irving, Melita

المصدر: Orphanet Journal of Rare Diseases. 18(1)

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

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-106615Test
https://doi.org/10.1186/s13023-023-02755-wTest

المؤلفون: Zhou, Wei, van Rooij, Jeroen G.J., van de Laarschot, Denise M., Zervou, Zografia, Bruggenwirth, Hennie, Appelman-Dijkstra, Natasha M., Ebeling, Peter R., Demirdas, Serwet, Verkerk, Annemieke J.M.H., Zillikens, M. Carola

المصدر: Zhou , W , van Rooij , J G J , van de Laarschot , D M , Zervou , Z , Bruggenwirth , H , Appelman-Dijkstra , N M , Ebeling , P R , Demirdas , S , Verkerk , A J M H & Zillikens , M C 2023 , ' Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients ' , Journal of Bone and Mineral Research , vol. 38 , no. 6 , pp. 896-906 . https://doi.org/10.1002/jbmr.4801Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/64d49de2-c494-434f-b86d-99a8ccc8a2fbTest

الإتاحة: https://doi.org/10.1002/jbmr.4801Test
https://pure.eur.nl/en/publications/64d49de2-c494-434f-b86d-99a8ccc8a2fbTest
https://pure.eur.nl/ws/files/94838718/Prevalence_of_Monogenic_Bone_Disorders_in_a_Dutch_Cohort_of_Atypical_Femur_Fracture_Patients.pdfTest
http://www.scopus.com/inward/record.url?scp=85153379737&partnerID=8YFLogxKTest

المؤلفون: Ciancia, Silvia, Högler, Wolfgang, Sakkers, Ralph J.B., Appelman-Dijkstra, Natasha M., Boot, Annemieke M., Sas, Theo C.J., Renes, Judith S.

المصدر: Ciancia , S , Högler , W , Sakkers , R J B , Appelman-Dijkstra , N M , Boot , A M , Sas , T C J & Renes , J S 2023 , ' Osteoporosis in children and adolescents : how to treat and monitor? ' , European Journal of Pediatrics , vol. 182 , no. 2 , pp. 501-511 . https://doi.org/10.1007/s00431-022-04743-xTest

العلاقة: https://pure.eur.nl/en/publications/bea71356-4773-4275-b90d-c6686a51ec4bTest

الإتاحة: https://doi.org/10.1007/s00431-022-04743-xTest
https://pure.eur.nl/en/publications/bea71356-4773-4275-b90d-c6686a51ec4bTest
http://www.scopus.com/inward/record.url?scp=85143399780&partnerID=8YFLogxKTest
https://pure.rug.nl/ws/files/273330020/s00431_022_04743_x.pdfTest

المؤلفون: Nowotny, Hanna F., Bryce, Jillian, Ali, Salma R., Giordano, Roberta, Baronio, Federico, Chifu, Irina, Tschaidse, Lea, Cools, Martine, van den Akker, Erica L. T., Falhammar, Henrik, Appelman-Dijkstra, Natasha M., Persani, Luca, Beccuti, Guglielmo, Ross, Ian L., Grozinsky-Glasberg, Simona, Pereira, Alberto M., Husebye, Eystein S., Hahner, Stefanie, Faisal Ahmed, S., Reisch, Nicole

المصدر: ENDOCRINE CONNECTIONS ; ISSN: 2049-3614

مصطلحات موضوعية: Medicine and Health Sciences, adrenal insufficiency, Cushing's syndrome, glucocorticoids, SARS-CoV-2, ENDOCRINOLOGY, MANAGEMENT

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HDKCKYVVY7NAAVQPHY8P6EWMTest; http://hdl.handle.net/1854/LU-01HDKCKYVVY7NAAVQPHY8P6EWMTest; http://doi.org/10.1530/EC-22-0416Test; https://biblio.ugent.be/publication/01HDKCKYVVY7NAAVQPHY8P6EWM/file/01HDKCTA523ZVNS3VVB2GS26DVTest

الإتاحة: https://doi.org/10.1530/EC-22-0416Test
https://biblio.ugent.be/publication/01HDKCKYVVY7NAAVQPHY8P6EWMTest
http://hdl.handle.net/1854/LU-01HDKCKYVVY7NAAVQPHY8P6EWMTest
https://biblio.ugent.be/publication/01HDKCKYVVY7NAAVQPHY8P6EWM/file/01HDKCTA523ZVNS3VVB2GS26DVTest

المؤلفون: Rufus-Membere, Pamela, Holloway-Kew, Kara L., Diez-Perez, Adolfo, Appelman-Dijkstra, Natasha M., Bouxsein, Mary L., Eriksen, Erik F., Farr, Joshua N., Khosla, Sundeep, Kotowicz, Mark A., Nogues, Xavier, Rubin, Mishaela, Pasco, Julie A.

المساهمون: National Health and Medical Research Council, Amgen-GSK OA-ANZBMS, National Institutes of Health

المصدر: Calcified Tissue International ; volume 112, issue 3, page 338-349 ; ISSN 1432-0827

مصطلحات موضوعية: Endocrinology, Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s00223-022-01047-yTest

المؤلفون: Meier, Maartje E., Appelman‐Dijkstra, Natasha M., Collins, Michael T., Geels, Raya E.S., Stanton, Robert P., de Witte, Pieter Bas, Boyce, Alison M., van de Sande, Michiel A.J.

المساهمون: Amgen, Bontius Stichting, Ultragenyx Pharmaceutical

المصدر: Journal of Bone and Mineral Research ; volume 38, issue 7, page 968-975 ; ISSN 0884-0431 1523-4681

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbmr.4818Test