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A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease by Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesmo, Caroline Graff
Published 2025-01-01Get full text
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Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease by Emma Ehn, Jesper Eisfeldt, Jose M. Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans, Anne M. Portaankorva, Matti Viitanen, Anna Lindstrand, Inger Nennesmo, Caroline Graff
Published 2025-03-01Get full text
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11: To remap or not to remap: the relevance of the genome references to resolve rare inversions by Claudia M.B. Carvalho, Kristine Bilgrav Saether, Jesse Bengtsson, Jesper Eisfeldt, Ming Yin Lun, Jakob Schuy, Medhat Mahmoud, Christopher M. Grochowski, Davut Pehlivan, Fritz J. Sedlazeck, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Ronit Marom, Anna Lindstrand
Published 2025-01-01Get full text
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