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Journal Article

Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am. J. Med. Genet. A, 173 (4). S. 1102 - 1109. HOBOKEN: WILEY. ISSN 1552-4833

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

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