about
Down-syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.Autosomal recessive primary microcephaly due to ASPM mutations: An update.INTU-related oral-facial-digital syndrome type VI: a confirmatory report.Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsPhenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesIn vitro influence of fatty acids and bilirubin on binding of mycophenolic acid to human serum albuminPhosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephalyHypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndromeDigenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathwaysActivating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeVPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory reportDermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
P50
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P50
description
researcher ORCID ID = 0000-0003-1437-0427
@en
name
Yoann Vial
@ast
Yoann Vial
@en
Yoann Vial
@es
Yoann Vial
@nl
type
label
Yoann Vial
@ast
Yoann Vial
@en
Yoann Vial
@es
Yoann Vial
@nl
prefLabel
Yoann Vial
@ast
Yoann Vial
@en
Yoann Vial
@es
Yoann Vial
@nl
P108
P31
P496
0000-0003-1437-0427