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List of works by Massimiliano Leoni

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

scientific article published on 26 November 2013

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

scientific article

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

scientific article published on 13 August 2014

Massive calcinosis and severe osteoporosis in paediatric-onset overlap syndrome

scientific article published on 14 November 2013

Monitoring of Busulphan Concentrations in Children Undergone Hematopoietic Stem Cell Transplantation: Unicentric Experience over 10 years.

scientific article published on 11 August 2017

Primary red ear syndrome associated with cochleo-vestibular symptomatology: a paediatric case report.

scientific article published on 25 June 2013

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