Search filters

List of works by Yoann Vial

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

scientific article published on 23 May 2019

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

scientific article published on 30 September 2018

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways

scientific article published on 07 November 2019

Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome

scientific article published on 7 December 2017

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

scientific article published on 10 March 2020

INTU-related oral-facial-digital syndrome type VI: a confirmatory report

scientific article published on 16 February 2018

In vitro influence of fatty acids and bilirubin on binding of mycophenolic acid to human serum albumin

scientific article published on 29 September 2010

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ⬇️

journal article from 'European Journal of Medical Genetics' published in 2018

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

scientific article published on 25 April 2017

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

scientific article published on 20 October 2020

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

scientific article published on 14 June 2019

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

Paulina is supported by:

About Paulina

Help