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Lista de obras de Ivana Ricca

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

artículo científico publicado en 2008

A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome

artículo científico publicado en 2012

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

artículo científico publicado en 2012

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

artículo científico publicado en 2006

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

scientific article published on 15 August 2019

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

artículo científico

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

article

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

artículo científico publicado en 2008

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