المؤلفون: van Dijk, Fleur S., Semler, Oliver, Etich, Julia, Köhler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen Lisset, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J.M., Franken, Anton A.M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G.J., Santen, Gijs W.E., Nüchel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M.W., Pals, Gerard, Mörgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank, Micha, Dimitra

المصدر: van Dijk , F S , Semler , O , Etich , J , Köhler , A , Jimenez-Estrada , J A , Bravenboer , N , Claeys , L , Riesebos , E , Gegic , S , Piersma , S R , Jimenez , C R , Waisfisz , Q , Flores , C L , Nevado , J , Harsevoort , A J , Janus , G J M , Franken , A A M , van der Sar , A M , Meijers-Heijboer , H , Heath , K E , Lapunzina , P , ....

مصطلحات موضوعية: HSP47, KDELR2, osteogenesis imperfecta, retrograde Golgi-ER transport

العلاقة: https://research.rug.nl/en/publications/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.009Test
https://hdl.handle.net/11370/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test
https://research.rug.nl/en/publications/e1bb1adc-45f0-4248-9dbb-1b7185512c23Test
http://www.scopus.com/inward/record.url?scp=85094975571&partnerID=8YFLogxKTest

المؤلفون: Li, Guowei, Jin, Yanling, Levine, Mitchell A. H., Hoyer‐Kuhn, Heike, Ward, Leanne, Adachi, Jonathan D., Hoyer-Kuhn, Heike

المصدر: Acta Paediatrica; Mar2018, Vol. 107 Issue 3, p534-537, 4p

مصطلحات موضوعية: SYSTEMATIC reviews, OSTEOGENESIS imperfecta, OSTEOPOROSIS in children, CARTILAGE diseases, SPONTANEOUS fractures, DENOSUMAB

المؤلفون: Rehberg, Mirko, Winzenrieth, Renaud, Hoyer-Kuhn, Heike, Duran, Ibrahim, Schoenau, Eckhard, Semler, Oliver

المصدر: Journal of Clinical Densitometry; Apr2019, Vol. 22 Issue 2, p229-235, 7p

المؤلفون: Semler, Oliver, Rehberg, Mirko, Mehdiani, Nava, Jackels, Miriam, Hoyer-Kuhn, Heike

المصدر: Pediatric Drugs; Apr2019, Vol. 21 Issue 2, p95-106, 12p

مصطلحات موضوعية: SKELETAL abnormalities, OSTEOGENESIS imperfecta, FIBRODYSPLASIA ossificans progressiva, MEDICAL care, PATHOLOGICAL physiology, DENOSUMAB

المؤلفون: Hoyer-Kuhn, Heike, Höbing, Laura, Cassens, Julia, Schoenau, Eckhard, Semler, Oliver

المصدر: Journal of Pediatric Endocrinology & Metabolism; Jul2016, Vol. 29 Issue 7, p813-818, 6p

المؤلفون: Hoyer-Kuhn, Heike, Knoop, Kai, Semler, Oliver, Kuhr, Kathrin, Hellmich, Martin, Schoenau, Eckhard, Koerber, Friederike

المصدر: Journal of Clinical Densitometry; Apr2016, Vol. 19 Issue 2, p208-215, 8p

العنوان البديل: Osteogenesis imperfecta: Update zu Pathophysiology und Therapie. (German)

المؤلفون: Hoyer-Kuhn, Heike, Netzer, Christian, Semler, Oliver

المصدر: Wiener Medizinische Wochenschrift; Jul2015, Vol. 165 Issue 13/14, p278-284, 7p

المؤلفون: Hoyer-Kuhn, Heike¹ heike-katharina.hoyer-kuhn@uk-koeln.de, Netzer, Christian² christian.netzer@uk-koeln.de, Koerber, Friederike³ friederike.koerber@uk-koeln.de, Schoenau, Eckhard¹ eckhard.schoenau@uk-koeln.de, Semler, Oliver¹ joerg.semler@uk-koeln.de

المصدر: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p2-15. 14p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *GENETIC disorders, *BONE abnormalities, *DIPHOSPHONATES, *PATHOLOGICAL physiology, *JUVENILE diseases, *DIAGNOSIS

المؤلفون: Hoyer-Kuhn, Heike, Semler, Oliver, Garbes, Lutz, Zimmermann, Katharina, Becker, Jutta, Wollnik, Bernd, Schoenau, Eckhard, Netzer, Christian

المصدر: Journal of Bone & Mineral Research; Jun2014, Vol. 29 Issue 6, p1387-1391, 5p

المؤلفون: Hoyer-Kuhn, Heike¹ heike-katharina.hoyer-kuhn@uk-koeln.de, Semler, Oliver¹ joerg.semler@uk-koeln.de, Schoenau, Eckhard¹ eckhard.schoenau@uk-koeln.de, Roschger, Paul² paul.roschger@osteologie.at, Klaushofer, Klaus² klaus.klaushofer@osteologie.at, Rauch, Frank³ frauch@shriners.mcgill.ca

المصدر: Calcified Tissue International. Dec2013, Vol. 93 Issue 6, p565-570. 6p.

مصطلحات موضوعية: *BONE growth, *MINERAL content of bones, *BIOMINERALIZATION, *ANALYSIS of bones, *GENETIC mutation, *BONE morphogenetic proteins