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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A; Toni F; Pettenuzzo I; Ricci E; Rocca A; Gambi C; Soliani L; Di Pisa V; Martini S; Sperti G; Cagnazzo V; Accorsi P; Bartolini E; Battaglia D; Bernardo P; Canevini MP; Ferrari AR; Giordano L; Locatelli C; Mancardi M; Orsini A; Pippucci T; Pruna D; Rosati A; Suppiej A; Tagliani S; Vaisfeld A; Vignoli A; Izumi K; Krantz I; Cordelli DM.
Orphanet J Rare Dis
(Unknown)
Published: 2024
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1.
Zhong H; Zeng L; Yu X; Ke Q; Dong J; Chen Y; Luo L; Chang X; Guo J; Wang Y; Xiong H; Liu R; Liu C; Wu J; Lin J; Xi J; Zhu W; Tan S; Liu F; Lu J; Zhao C; Luo S.
Orphanet J Rare Dis
(Unknown)
Published: 2024
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry fo…
Atalaia A; Wandrei D; Lalout N; Thompson R; Tassoni A; 't Hoen PAC; Athanasiou D; Baker SA; Sakellariou P; Paliouras G; D'Angelo C; Horvath R; Mancuso M; van der Beek N; Kornblum C; Kirschner J; Pareyson D; Bassez G; Blacas L; Jacoupy M; Eng C; Lamy F; Plançon JP; Haberlova J; Brusse E; Hoeijmakers JGJ; de Visser M; Claeys KG; Paradas C; Toscano A; Silani V; Gyenge M; Reviers E; Hamroun D; Vroom E; Wilkinson MD; Lochmuller H; Evangelista T.
Orphanet J Rare Dis
(Unknown)
Published: 2024