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Lista de obras de Arthur Sorlin

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

artículo científico publicado en 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

artículo científico publicado en 2019

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials

artículo científico publicado en 2021

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

artículo científico publicado en 2019

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations

scientific article published on 05 December 2020

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

scientific article published on 24 April 2019

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

artículo científico publicado en 2021

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

scientific article published on 30 April 2019

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