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List of works by Vincent Michaud

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

scientific article published on 03 April 2020

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism

scientific article published on 03 April 2019

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

scientific article published on 22 June 2017

Molecular characterization of a series of 990 index patients with albinism.

scientific article published on 18 January 2018

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak Syndrome

scientific article published on 20 July 2020

Study of emotional and cognitive impairments in mononeuropathic rats: Effect of duloxetine and gabapentin ⬇️

scientific article published on June 2, 2012

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