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Home > For Clinicians > List Of Publications > Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

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