List of works - Simone Martinelli - Paulina

List of works by Simone Martinelli

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

scientific article published on 10 August 2021

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

scientific article published on 01 March 2022

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

scientific article published in April 2018

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

scientific article published on 29 February 2020

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