Jean‐Michaël Mazzella
Assistance Publique Hôpitaux de Marseille(FR)Association Française de Chirurgie(FR)Mutuelle Générale de l'Éducation Nationale(FR)Hôpital de la Timone(FR)
Publications by Year
Research Areas
Connective tissue disorders research, Dermatological and Skeletal Disorders, Aortic Disease and Treatment Approaches, Congenital Heart Disease Studies, Wnt/β-catenin signaling in development and cancer
Most-Cited Works
- → The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome(2015)234 cited
- → Vascular Ehlers-Danlos Syndrome(2019)172 cited
- → Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease(2018)96 cited
- → Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum(2017)87 cited
- → Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma(2016)54 cited
- → Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene(2019)37 cited