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: Pagnamenta, Alistair T., Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P., Toosi, Mehran B., Calder, Alistair D., Karimiani, Ehsan G., Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, 1969, Lester, Tracy, Maroofian, Reza, Heath, Karen E., Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C.

المصدر: Journal of Medical Genetics. 59(10):947-950

مصطلحات موضوعية: Genetics (clinical), Genetics, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-20732Test
https://doi.org/10.1136/jmedgenet-2021-108027Test
https://his.diva-portal.org/smash/get/diva2:1615652/FULLTEXT02.pdfTest

المؤلفون: Maghnie, Mohamad, Semler, Oliver, Guillen-Navarro, Encarna, Selicorni, Angelo, Heath, Karen E., Haeusler, Gabriele, Hagenäs, Lars, Merker, Andrea, Leiva-Gea, Antonio, González, Vanesa López, Raimann, Adalbert, Rehberg, Mirko, Santos-Simarro, Fernando, Ertl, Diana Alexandra, Gregersen, Pernille Axél, Onesimo, Roberta, Landfeldt, Erik, Jarrett, James, Quinn, Jennifer, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Butt, Thomas, Shediac, Renée, Mukherjee, Swati, Mohnike, Klaus

المصدر: 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 ....

مصطلحات موضوعية: Achondroplasia, Disease burden, Fibroblast growth factor receptor 3 (FGFR3), Natural history, Skeletal dysplasia

العلاقة: https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaiseTest(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html

الإتاحة: https://doi.org/10.1186/s13023-023-02652-2Test
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaiseTest(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html
http://www.scopus.com/inward/record.url?scp=85150312732&partnerID=8YFLogxKTest

المؤلفون: Sifre-Ruiz, Anna, Sagasta, Amaia, Santos, Erika, Perez de Nanclares, Guiomar, Heath, Karen E.

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1165780Test

المؤلفون: Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M., Twigg, Stephen R. F., Calpena, Eduardo, Carceller-Benito, Fernando E., Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E.

المساهمون: Ministerio de Ciencia, Innovación y Universidades

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.1089417Test

المؤلفون: Rodríguez del Rosario, Silvia, Modamio-Høybjør, Silvia, Heath, Karen E., Bahillo-Curieses, M. Pilar

المصدر: Anales de Pediatría (English Edition) ; volume 99, issue 5, page 364-365 ; ISSN 2341-2879

مصطلحات موضوعية: General Earth and Planetary Sciences, General Environmental Science

الإتاحة: https://doi.org/10.1016/j.anpede.2023.10.005Test
https://api.elsevier.com/content/article/PII:S2341287923002314?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2341287923002314?httpAccept=text/plainTest

المؤلفون: Rodríguez del Rosario, Silvia, Modamio-Høybjør, Silvia, Heath, Karen E., Bahillo-Curieses, M. Pilar

المصدر: Anales de Pediatría ; volume 99, issue 5, page 364-365 ; ISSN 1695-4033

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.anpedi.2023.05.004Test
https://api.elsevier.com/content/article/PII:S1695403323001170?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1695403323001170?httpAccept=text/plainTest

المؤلفون: Leiva-Gea, Antonio, Lirio, Maria F. Martos, Bonis, Ana Coral Barreda, del Barrio, Silvia Marin, Heath, Karen E., Reina, Purificacion Marin, Guillen-Navarro, Encarna, Simarro, Fernando Santos, Galan, Isolina Riano, Fernandez, Diego Yeste, Leiva-Gea, Isabel

المساهمون: Leiva-Gea, Antonio Hosp Univ Virgen Victoria, UGC Cirugia Ortoped & Traumatol, Inst Invest Biomed Malaga IBIMA Plataforma Bionand, Malaga, Spain, Leiva-Gea, Isabel Hosp Univ Virgen Victoria, UGC Cirugia Ortoped & Traumatol, Inst Invest Biomed Malaga IBIMA Plataforma Bionand, Malaga, Spain, Lirio, Maria F. Martos Hosp Reg Malaga, Unidad Endocrinol Pediat, Malaga, Spain, Bonis, Ana Coral Barreda Hosp Univ La Paz, Serv Endorinol Infantil, Madrid, Spain, Bonis, Ana Coral Barreda Hosp Univ La Paz, Unidad multidisciplinar displasias esquelet UMDE E, Madrid, Spain, del Barrio, Silvia Marin Hosp San Joan de Deu, Unidad Endocrinol Pediat, Barcelona, Spain, Heath, Karen E. Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPAZ & UMDE ERN BOND, Madrid, Spain, Fernandez, Diego Yeste Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPAZ & UMDE ERN BOND, Madrid, Spain, Lirio, Maria F. Martos Hosp Univ & Politecn La Fe, Unidad Dismorfol & Genet Reprod, Valencia, Spain, Guillen-Navarro, Encarna Univ Murcia, Serv Genet Med, Serv Pediat, IMIB Pascual Parrilla,Hosp Clin Univ Virgen Arrixa, Murcia, Spain, Simarro, Fernando Santos Hosp Univ Son Espases, Unidad Diagnost Mol & Genet Clin, Idisba, Palma De Mallorca, Spain, Galan, Isolina Riano Hosp Reg Malaga, Unidad Endocrinol Pediat, Inst Invest Biomed Malaga Plataforma Bionand, HUCA,CIBERESP, Malaga, Spain, Fernandez, Diego Yeste Univ Autonoma Barcelona, Hosp Univ Vall Hebron, Serv Endocrinol Pediat, Barcelona, Spain, Leiva-Gea, Isabel Hosp Reg Malaga, Inst Invest Biomed Malaga Plataforma Bionand, Unidad Endocrinol Pediat, Malaga, Spain

مصطلحات موضوعية: Achondroplasia, Bone dysplasia, FGFR3, Children, Growth, Charts

العلاقة: http://hdl.handle.net/10668/21968Test; https://doi.org/10.1016/j.anpedi.2022.10.004Test; 933109900009

الإتاحة: https://doi.org/10.1016/j.anpedi.2022.10.004Test
http://hdl.handle.net/10668/21968Test

المؤلفون: Díaz-González, Francisca, Sentchordi-Montané, Lucía, Lucas Castro, Elsa, Modamio-Høybjør, Silvia, Heath, Karen E

المصدر: Eur J Endocrinol ; ISSN:1479-683X

مصطلحات موضوعية: IHH, C-terminal variants, brachydactyly, functional studies, short stature

العلاقة: https://doi.org/10.1093/ejendo/lvae072Test; https://pubmed.ncbi.nlm.nih.gov/38917024Test

الإتاحة: https://doi.org/10.1093/ejendo/lvae072Test
https://pubmed.ncbi.nlm.nih.gov/38917024Test

المؤلفون: Ramos‐Mejía, Rosario, Heath, Karen E., Modamio‐Høybjør, Silvia, Huckstadt, Victoria, Calcagni, Julián, Remondino, Rodrigo, Fano, Virginia

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-4, 4p