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Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene by Frances Smith, Sila Hopton, Cristina Dallabona, Micol Gilberti, Gavin Falkous, Fiona Norwood, Claudia Donnini, Gráinne S. Gorman, Barnaby Clark, Robert W. Taylor, Austin G. Kulasekararaj
Published 2018-12-01
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An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene by Zita Reisz, Rita Pereira, Smitha Nevis, Alan Mackay, Leena Bhaw, Yura Grabovska, Ross Laxton, Valeria Molinari, Anna Burford, Barnaby Clark, Cristina Bleil, Bassel Zebian, Erika Pace, Annette Weiser, Fernando Carceller, Lynley Marshall, Andrew King, Istvan Bodi, Safa Al-Sarraj, Chris Jones, Matthew Clarke
Published 2025-01-01
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The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper by Noémi B. A. Roy, Lydie Da Costa, Roberta Russo, Paola Bianchi, Maria del Mar Mañú-Pereira, Elisa Fermo, Immacolata Andolfo, Barnaby Clark, Melanie Proven, Mayka Sanchez, Richard van Wijk, Bert van der Zwaag, Mark Layton, David Rees, Achille Iolascon, on behalf of the British Society for Haematology and the European Hematology Association
Published 2022-06-01
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