-
1دورية أكاديمية
المؤلفون: Irving, Melita, AlSayed, Moeenaldeen, Arundel, Paul, Baujat, Geneviève, Ben-Omran, Tawfeg, Boero, Silvio, Cormier-Daire, Valérie, Fredwall, Svein, Guillen-Navarro, Encarna, Hoyer-Kuhn, Heike, Kunkel, Philip, Lampe, Christian, Maghnie, Mohamad, Mohnike, Klaus, Mortier, Geert, Sousa, Sérgio B.
المساهمون: BioMarin Pharmaceutical, Sanofi, Ascendis Pharma, QED Therapeutics, Pfizer
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
2دورية أكاديمية
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: The American Journal of Human Genetics ; volume 107, issue 5, page 989-999 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.009Test
https://api.elsevier.com/content/article/PII:S0002929720303293?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929720303293?httpAccept=text/plainTest -
3دورية أكاديمية
المساهمون: Wilsing Stiftung, Osteogenesis imperfecta Stiftung Baden-Wüttemberg
المصدر: Orphanet Journal of Rare Diseases ; volume 14, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
4دورية أكاديمية
المؤلفون: Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver, Bohlander, Stefan K., Kim, Jinoh, Netzer, Christian
المساهمون: Ministry of Science, ICT and Future Planning, National Institutes of Health, Korea Basic Science Institute, National Institute of General Medical Sciences, National Institute of Dental and Craniofacial Research, Bundesministerium für Bildung und Forschung, National Research Foundation
المصدر: The American Journal of Human Genetics ; volume 96, issue 3, page 432-439 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2015.01.002Test
https://api.elsevier.com/content/article/PII:S0002929715000105?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929715000105?httpAccept=text/xmlTest -
5دورية أكاديمية
المؤلفون: Hoyer-Kuhn, Heike, Netzer, Christian, Koerber, Friederike, Schoenau, Eckhard, Semler, Oliver
المصدر: Orphanet Journal of Rare Diseases ; volume 9, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine