List of works - Thierry Vilboux - Paulina

List of works by Thierry Vilboux

A congenital neutrophil defect syndrome associated with mutations in VPS45.

scientific article published on 05 June 2013

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

scientific article published on 3 November 2017

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

scientific article published on March 2017

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

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