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EJMG
Rivista
Codice:
E214961
ISSN:
1468-6244
Dati Generali
Dati Generali
Pubblicazioni (5)
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Articolo
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
Articolo
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2
Articolo
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
Articolo
Mitochondrial DNA haplogroups influence the Fredreich ataxia phenotype
Articolo
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