Rare

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Rare - 最新文献

Consensus recommendation for the treatment of generalised Myasthenia Gravis with anti-acetylcholine receptor antibodies (gMG AChR+) in Spain

Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100051 Elena Cortés-Vicente , Raquel Hernández , Eva Martínez , Julio Pardo , Francisco Javier Rodríguez de Rivera , on behalf of the Neuromuscular Diseases Study Group (GEEN) of the Spanish Society of Neurology

Realising the potential impact of artificial intelligence for rare diseases – A framework

Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2024.100057 Tudor Groza , Chun-Hung Chan , David A. Pearce , Gareth Baynam

Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant

Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100087 Morten Reiffenstein Huno , Trine Østergaard Nielsen , Michel Bach Hellfritzsch , Sara Markholt , Michael Davidsen , Stine Maria Lund Andersen , Sia Mariann Kjeldsen , Thomas Krusenstjerna-Hafstrøm , Stephen P. Robertson , Pernille Axél Gregersen

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