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2020
Pan, Wayne, Guillen-Navarro, Encama, Queisser-Wahrendorf, Annette, Semler, Oliver, Maghnie, Mohamad, Allegri, Anna Elsa Maria ORCID: 0000-0002-5927-049X, Selicomi, Angelo, Gonzalez-Meneses, Antonio, Zampino, Giuseppe, Onesimo, Roberta, Perez-Tomas, Elena, Mariscal, Jorge, Wieset, Awi, Taje, Silvia, Rehberg, Mirko, Haeusler, Gabriele, Hagenas, Lars, Leiva, Antonio, Delgado, Borja, Queipo de Llano, Alfonso, Ertl, Diana-Alexandra, Gregersen, Pernille Axel, Shediac, Renee, Jarrett, James, Mukherjee, Swati and Mohnike, Klaus (2020). Lifetime impact of achondroplasia on health-related quality of life (HR-QoL) and healthcare resource use: interim results from a multinational study. Horm. Res. Paediatr., 93. S. 120 - 122. BASEL: KARGER. ISSN 1663-2826
2016
Harley, Margaret E., Murina, Olga ORCID: 0000-0003-1650-2892, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Goekhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah ORCID: 0000-0002-0077-0991, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Sabbioneda, Simone ORCID: 0000-0001-8551-5465, Elcioglu, Nursel H., Altmueller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nuernberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S. and Jackson, Andrew P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nature Genet., 48 (1). S. 36 - 46. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718